Canonical Allele Identifier: CA394660446

Gene: NAGPA

Linked Data

• dbSNP Id: rs1478783830
• gnomAD v3: 16-5027982-T-A
• gnomAD v4: 16-5027982-T-A
• MyVariant Identifiers: chr16:g.5077983T>A (hg19) ; chr16:g.5027982T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5027982T>A , CM000678.2:g.5027982T>A	GRCh38
NC_000016.9:g.5077983T>A , CM000678.1:g.5077983T>A	GRCh37
NC_000016.8:g.5017984T>A	NCBI36
NG_028152.1:g.10960A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312251.8:c.1124A>T MANE Select	ENSP00000310998.3:p.Glu375Val
ENST00000649828.1:c.*296A>T	ENSP00000498032.1:n.*296A>T
ENST00000312251.7:c.1124A>T	ENSP00000310998.3:p.Glu375Val
ENST00000381955.7:c.1124A>T	ENSP00000371381.3:p.Glu375Val
ENST00000562746.5:c.*296A>T	ENSP00000455900.1:n.*296A>T
ENST00000563578.5:c.738+898A>T
ENST00000564397.5:n.2177A>T
ENST00000565876.5:c.481-603A>T
ENST00000566137.5:n.422A>T
ENST00000567739.5:n.443A>T
ENST00000568202.5:n.987A>T
ENST00000569296.5:c.737A>T	ENSP00000465949.1:n.737A>T
NM_016256.3:c.1124A>T	NP_057340.2:p.Glu375Val
XM_011522517.1:c.1124A>T	XP_011520819.1:p.Glu375Val
XR_243285.1:n.1220A>T
XM_011522517.3:c.1124A>T	XP_011520819.1:p.Glu375Val
XR_001751908.2:n.1219A>T
XR_001751909.2:n.1223A>T
XR_001751910.2:n.1252A>T
XR_001751911.2:n.1252A>T
XR_001751912.2:n.1256A>T
NM_016256.4:c.1124A>T MANE Select	NP_057340.2:p.Glu375Val