Canonical Allele Identifier: CA721280166

Gene: NAGPA

Linked Data

• dbSNP Id: rs1260688279
• gnomAD v3: 16-5027643-A-G
• gnomAD v4: 16-5027643-A-G
• MyVariant Identifiers: chr16:g.5077644A>G (hg19) ; chr16:g.5027643A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5027643A>G , CM000678.2:g.5027643A>G	GRCh38
NC_000016.9:g.5077644A>G , CM000678.1:g.5077644A>G	GRCh37
NC_000016.8:g.5017645A>G	NCBI36
NG_028152.1:g.11299T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312251.8:c.1174+203T>C MANE Select	ENSP00000310998.3:n.1174+203T>C
ENST00000649828.1:c.*346+203T>C	ENSP00000498032.1:n.*346+203T>C
ENST00000312251.7:c.1174+203T>C	ENSP00000310998.3:n.1174+203T>C
ENST00000381955.7:c.1174+203T>C	ENSP00000371381.3:n.1174+203T>C
ENST00000562746.5:c.*346+203T>C	ENSP00000455900.1:n.*346+203T>C
ENST00000563578.5:c.738+1237T>C
ENST00000564397.5:n.2227+203T>C
ENST00000565876.5:c.481-264T>C
ENST00000566137.5:n.472+203T>C
ENST00000567739.5:n.493+203T>C
ENST00000568202.5:n.1037+203T>C
ENST00000569296.5:c.787+203T>C	ENSP00000465949.1:n.787+203T>C
NM_016256.3:c.1174+203T>C	NP_057340.2:n.1174+203T>C
XM_011522517.1:c.1174+203T>C	XP_011520819.1:n.1174+203T>C
XR_243285.1:n.1270+203T>C
XM_011522517.3:c.1174+203T>C	XP_011520819.1:n.1174+203T>C
XR_001751908.2:n.1269+203T>C
XR_001751909.2:n.1273+203T>C
XR_001751910.2:n.1302+203T>C
XR_001751911.2:n.1302+203T>C
XR_001751912.2:n.1306+203T>C
NM_016256.4:c.1174+203T>C MANE Select	NP_057340.2:n.1174+203T>C