Canonical Allele Identifier: CA394660942

Gene: NAGPA

Linked Data

• dbSNP Id: rs150254440
• gnomAD v2: 16-5078041-C-A
• gnomAD v3: 16-5028040-C-A
• gnomAD v4: 16-5028040-C-A
• MyVariant Identifiers: chr16:g.5078041C>A (hg19) ; chr16:g.5028040C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5028040C>A , CM000678.2:g.5028040C>A	GRCh38
NC_000016.9:g.5078041C>A , CM000678.1:g.5078041C>A	GRCh37
NC_000016.8:g.5018042C>A	NCBI36
NG_028152.1:g.10902G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000312251.8:c.1066G>T MANE Select	ENSP00000310998.3:p.Gly356Cys
ENST00000649828.1:c.*238G>T	ENSP00000498032.1:n.*238G>T
ENST00000312251.7:c.1066G>T	ENSP00000310998.3:p.Gly356Cys
ENST00000381955.7:c.1066G>T	ENSP00000371381.3:p.Gly356Cys
ENST00000562746.5:c.*238G>T	ENSP00000455900.1:n.*238G>T
ENST00000563578.5:c.738+840G>T
ENST00000564397.5:n.2119G>T
ENST00000565876.5:c.481-661G>T
ENST00000566137.5:n.364G>T
ENST00000567739.5:n.385G>T
ENST00000568202.5:n.929G>T
ENST00000569296.5:c.679G>T	ENSP00000465949.1:n.679G>T
NM_016256.3:c.1066G>T	NP_057340.2:p.Gly356Cys
XM_011522517.1:c.1066G>T	XP_011520819.1:p.Gly356Cys
XR_243285.1:n.1162G>T
XM_011522517.3:c.1066G>T	XP_011520819.1:p.Gly356Cys
XR_001751908.2:n.1161G>T
XR_001751909.2:n.1165G>T
XR_001751910.2:n.1194G>T
XR_001751911.2:n.1194G>T
XR_001751912.2:n.1198G>T
NM_016256.4:c.1066G>T MANE Select	NP_057340.2:p.Gly356Cys