Canonical Allele Identifier: CA385122544

Gene: HNRNPA1

Linked Data

• gnomAD v4: 12-54283966-A-C
• MyVariant Identifiers: chr12:g.54677750A>C (hg19) ; chr12:g.54283966A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.54283966A>C , CM000674.2:g.54283966A>C	GRCh38
NC_000012.11:g.54677750A>C , CM000674.1:g.54677750A>C	GRCh37
NC_000012.10:g.52964017A>C	NCBI36
NG_033830.1:g.8263A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340913.11:c.1062A>C MANE Select	ENSP00000341826.7:p.Gln354His
ENST00000550482.2:c.906A>C	ENSP00000446486.2:p.Gln302His
ENST00000676472.1:c.194A>C
ENST00000676572.1:c.288A>C
ENST00000676707.1:c.209A>C
ENST00000676725.1:n.1236A>C
ENST00000676794.1:c.81A>C	ENSP00000504819.1:p.Gln27His
ENST00000676853.1:c.290A>C
ENST00000676886.1:c.85-292A>C
ENST00000676951.1:c.311A>C
ENST00000677191.1:c.402A>C
ENST00000677210.1:c.1062A>C	ENSP00000503610.1:p.Gln354His
ENST00000677220.1:c.132+2464A>C	ENSP00000502987.1:n.132+2464A>C
ENST00000677224.1:c.164A>C
ENST00000677249.1:c.903A>C	ENSP00000503649.1:p.Gln301His
ENST00000677279.1:c.161A>C
ENST00000677375.1:c.906A>C	ENSP00000503651.1:p.Gln302His
ENST00000677385.1:c.*1248A>C	ENSP00000502985.1:n.*1248A>C
ENST00000677518.1:c.125A>C
ENST00000677539.1:c.444A>C
ENST00000677636.1:c.248A>C
ENST00000677778.1:c.75+1092A>C
ENST00000677840.1:c.155A>C
ENST00000677847.1:c.95A>C
ENST00000677945.1:c.233A>C
ENST00000678077.1:c.771A>C	ENSP00000504814.1:p.Gln257His
ENST00000678212.1:c.250A>C
ENST00000678279.1:n.141A>C
ENST00000678365.1:n.49-2696A>C
ENST00000678412.1:c.157-292A>C
ENST00000678418.1:n.1258A>C
ENST00000678424.1:c.287A>C
ENST00000678448.1:c.254A>C	ENSP00000503619.1:n.254A>C
ENST00000678456.1:c.76-292A>C
ENST00000678513.1:c.182A>C
ENST00000678581.1:c.290A>C
ENST00000678597.1:c.179A>C
ENST00000678611.1:c.296A>C
ENST00000678873.1:c.230A>C
ENST00000678876.1:c.248A>C
ENST00000678934.1:c.209A>C
ENST00000678970.1:c.231A>C
ENST00000679026.1:c.155A>C
ENST00000679063.1:c.230A>C
ENST00000679079.1:c.157-583A>C
ENST00000679228.1:n.1257A>C
ENST00000679273.1:c.242A>C	ENSP00000504626.1:n.242A>C
ENST00000679344.1:c.263A>C
ENST00000330752.12:c.867A>C	ENSP00000333504.8:p.Gln289His
ENST00000340913.10:c.1062A>C	ENSP00000341826.6:p.Gln354His
ENST00000546500.5:c.906A>C	ENSP00000448617.1:p.Gln302His
ENST00000547276.5:c.747A>C	ENSP00000447260.1:p.Gln249His
ENST00000547566.5:c.906A>C	ENSP00000449913.1:p.Gln302His
ENST00000550482.1:c.519A>C	ENSP00000446486.1:p.Gln173His
ENST00000551679.1:n.244A>C
NM_002136.2:c.906A>C	NP_002127.1:p.Gln302His
NM_031157.2:c.1062A>C	NP_112420.1:p.Gln354His
XM_005268826.1:c.1062A>C	XP_005268883.1:p.Gln354His
XR_245923.1:n.1174A>C
XR_245924.1:n.1018A>C
NM_002136.3:c.906A>C	NP_002127.1:p.Gln302His
NM_031157.3:c.1062A>C	NP_112420.1:p.Gln354His
NR_135167.1:n.1024A>C
XM_005268826.2:c.1062A>C	XP_005268883.1:p.Gln354His
XR_245923.2:n.1134A>C
NM_002136.4:c.906A>C	NP_002127.1:p.Gln302His
NM_031157.4:c.1062A>C MANE Select	NP_112420.1:p.Gln354His
NR_135167.2:n.988A>C