Canonical Allele Identifier: CA277160745

Gene: NAGPA

Linked Data

• dbSNP Id: rs1047302873
• gnomAD v3: 16-5027946-T-C
• gnomAD v4: 16-5027946-T-C
• MyVariant Identifiers: chr16:g.5077947T>C (hg19) ; chr16:g.5027946T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5027946T>C , CM000678.2:g.5027946T>C	GRCh38
NC_000016.9:g.5077947T>C , CM000678.1:g.5077947T>C	GRCh37
NC_000016.8:g.5017948T>C	NCBI36
NG_028152.1:g.10996A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312251.8:c.1126+34A>G MANE Select	ENSP00000310998.3:n.1126+34A>G
ENST00000649828.1:c.*298+34A>G	ENSP00000498032.1:n.*298+34A>G
ENST00000312251.7:c.1126+34A>G	ENSP00000310998.3:n.1126+34A>G
ENST00000381955.7:c.1126+34A>G	ENSP00000371381.3:n.1126+34A>G
ENST00000562746.5:c.*298+34A>G	ENSP00000455900.1:n.*298+34A>G
ENST00000563578.5:c.738+934A>G
ENST00000564397.5:n.2179+34A>G
ENST00000565876.5:c.481-567A>G
ENST00000566137.5:n.424+34A>G
ENST00000567739.5:n.445+34A>G
ENST00000568202.5:n.989+34A>G
ENST00000569296.5:c.739+34A>G	ENSP00000465949.1:n.739+34A>G
NM_016256.3:c.1126+34A>G	NP_057340.2:n.1126+34A>G
XM_011522517.1:c.1126+34A>G	XP_011520819.1:n.1126+34A>G
XR_243285.1:n.1222+34A>G
XM_011522517.3:c.1126+34A>G	XP_011520819.1:n.1126+34A>G
XR_001751908.2:n.1221+34A>G
XR_001751909.2:n.1225+34A>G
XR_001751910.2:n.1254+34A>G
XR_001751911.2:n.1254+34A>G
XR_001751912.2:n.1258+34A>G
NM_016256.4:c.1126+34A>G MANE Select	NP_057340.2:n.1126+34A>G