Canonical Allele Identifier: CA277160785
Gene: NAGPA HGNC NCBI

Linked Data

dbSNP Id: rs1020261063
gnomAD v2: 16-5077981-T-A
gnomAD v3: 16-5027980-T-A
gnomAD v4: 16-5027980-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.5027980T>A , CM000678.2:g.5027980T>A GRCh38
NC_000016.9:g.5077981T>A , CM000678.1:g.5077981T>A GRCh37
NC_000016.8:g.5017982T>A NCBI36
NG_028152.1:g.10962A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000312251.8:c.1126A>T MANE Select ENSP00000310998.3:p.Thr376Ser
ENST00000649828.1:c.*298A>T ENSP00000498032.1:n.*298A>T
ENST00000312251.7:c.1126A>T ENSP00000310998.3:p.Thr376Ser
ENST00000381955.7:c.1126A>T ENSP00000371381.3:p.Thr376Ser
ENST00000562746.5:c.*298A>T ENSP00000455900.1:n.*298A>T
ENST00000563578.5:c.738+900A>T
ENST00000564397.5:n.2179A>T
ENST00000565876.5:c.481-601A>T
ENST00000566137.5:n.424A>T
ENST00000567739.5:n.445A>T
ENST00000568202.5:n.989A>T
ENST00000569296.5:c.739A>T ENSP00000465949.1:n.739A>T
NM_016256.3:c.1126A>T NP_057340.2:p.Thr376Ser
XM_011522517.1:c.1126A>T XP_011520819.1:p.Thr376Ser
XR_243285.1:n.1222A>T
XM_011522517.3:c.1126A>T XP_011520819.1:p.Thr376Ser
XR_001751908.2:n.1221A>T
XR_001751909.2:n.1225A>T
XR_001751910.2:n.1254A>T
XR_001751911.2:n.1254A>T
XR_001751912.2:n.1258A>T
NM_016256.4:c.1126A>T MANE Select NP_057340.2:p.Thr376Ser