Canonical Allele Identifier: CA264780

Gene: HNRNPA1

Linked Data

• ClinVar Variation Id: 65453
• ClinVar RCV Id: RCV000055651 ; RCV003129768
• dbSNP Id: rs397518454
• ExAC: 12:54677644 A / G
• gnomAD v2: 12-54677644-A-G
• gnomAD v3: 12-54283860-A-G
• gnomAD v4: 12-54283860-A-G
• MyVariant Identifiers: chr12:g.54677644A>G (hg19) ; chr12:g.54283860A>G (hg38)
• PubMed: PMID:23455423

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.54283860A>G , CM000674.2:g.54283860A>G	GRCh38
NC_000012.11:g.54677644A>G , CM000674.1:g.54677644A>G	GRCh37
NC_000012.10:g.52963911A>G	NCBI36
NG_033830.1:g.8157A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340913.11:c.956A>G MANE Select	ENSP00000341826.7:p.Asn319Ser
ENST00000550482.2:c.800A>G	ENSP00000446486.2:p.Asn267Ser
ENST00000676472.1:c.88A>G
ENST00000676572.1:c.182A>G
ENST00000676707.1:c.103A>G
ENST00000676725.1:n.1130A>G
ENST00000676794.1:c.-26A>G	ENSP00000504819.1:n.-26A>G
ENST00000676853.1:c.184A>G
ENST00000676886.1:c.85-398A>G
ENST00000676951.1:c.205A>G
ENST00000677191.1:c.296A>G
ENST00000677210.1:c.956A>G	ENSP00000503610.1:p.Asn319Ser
ENST00000677220.1:c.132+2358A>G	ENSP00000502987.1:n.132+2358A>G
ENST00000677224.1:c.58A>G
ENST00000677249.1:c.797A>G	ENSP00000503649.1:p.Asn266Ser
ENST00000677279.1:c.55A>G
ENST00000677375.1:c.800A>G	ENSP00000503651.1:p.Asn267Ser
ENST00000677385.1:c.*1142A>G	ENSP00000502985.1:n.*1142A>G
ENST00000677518.1:c.49A>G
ENST00000677539.1:c.338A>G
ENST00000677636.1:c.142A>G
ENST00000677778.1:c.75+986A>G
ENST00000677840.1:c.49A>G
ENST00000677847.1:c.24+25A>G
ENST00000677945.1:c.127A>G
ENST00000678077.1:c.665A>G	ENSP00000504814.1:p.Asn222Ser
ENST00000678212.1:c.144A>G
ENST00000678279.1:n.67-32A>G
ENST00000678365.1:n.49-2802A>G
ENST00000678412.1:c.157-398A>G
ENST00000678418.1:n.1152A>G
ENST00000678424.1:c.181A>G
ENST00000678448.1:c.148A>G	ENSP00000503619.1:p.Thr50Ala
ENST00000678456.1:c.76-398A>G
ENST00000678513.1:c.76A>G
ENST00000678581.1:c.184A>G
ENST00000678597.1:c.73A>G
ENST00000678611.1:c.190A>G
ENST00000678873.1:c.124A>G
ENST00000678876.1:c.142A>G
ENST00000678934.1:c.103A>G
ENST00000678970.1:c.157-32A>G
ENST00000679026.1:c.49A>G
ENST00000679063.1:c.124A>G
ENST00000679079.1:c.156+626A>G
ENST00000679228.1:n.1151A>G
ENST00000679273.1:c.136A>G	ENSP00000504626.1:p.Thr46Ala
ENST00000679344.1:c.157A>G
ENST00000330752.12:c.761A>G	ENSP00000333504.8:p.Asn254Ser
ENST00000340913.10:c.956A>G	ENSP00000341826.6:p.Asn319Ser
ENST00000546500.5:c.800A>G	ENSP00000448617.1:p.Asn267Ser
ENST00000547276.5:c.641A>G	ENSP00000447260.1:p.Asn214Ser
ENST00000547566.5:c.800A>G	ENSP00000449913.1:p.Asn267Ser
ENST00000547708.5:c.452A>G	ENSP00000448229.1:p.Asn151Ser
ENST00000550482.1:c.413A>G	ENSP00000446486.1:p.Asn138Ser
ENST00000551679.1:n.138A>G
NM_002136.2:c.800A>G	NP_002127.1:p.Asn267Ser
NM_031157.2:c.956A>G	NP_112420.1:p.Asn319Ser
XM_005268826.1:c.956A>G	XP_005268883.1:p.Asn319Ser
XR_245923.1:n.1068A>G
XR_245924.1:n.912A>G
NM_002136.3:c.800A>G	NP_002127.1:p.Asn267Ser
NM_031157.3:c.956A>G	NP_112420.1:p.Asn319Ser
NR_135167.1:n.918A>G
XM_005268826.2:c.956A>G	XP_005268883.1:p.Asn319Ser
XR_245923.2:n.1028A>G
NM_002136.4:c.800A>G	NP_002127.1:p.Asn267Ser
NM_031157.4:c.956A>G MANE Select	NP_112420.1:p.Asn319Ser
NR_135167.2:n.882A>G