Canonical Allele Identifier: CA394660040

Gene: NAGPA

Linked Data

• dbSNP Id: rs1156873496
• gnomAD v2: 16-5077855-C-A
• gnomAD v4: 16-5027854-C-A
• MyVariant Identifiers: chr16:g.5077855C>A (hg19) ; chr16:g.5027854C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5027854C>A , CM000678.2:g.5027854C>A	GRCh38
NC_000016.9:g.5077855C>A , CM000678.1:g.5077855C>A	GRCh37
NC_000016.8:g.5017856C>A	NCBI36
NG_028152.1:g.11088G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312251.8:c.1166G>T MANE Select	ENSP00000310998.3:p.Cys389Phe
ENST00000649828.1:c.*338G>T	ENSP00000498032.1:n.*338G>T
ENST00000312251.7:c.1166G>T	ENSP00000310998.3:p.Cys389Phe
ENST00000381955.7:c.1166G>T	ENSP00000371381.3:p.Cys389Phe
ENST00000562746.5:c.*338G>T	ENSP00000455900.1:n.*338G>T
ENST00000563578.5:c.738+1026G>T
ENST00000564397.5:n.2219G>T
ENST00000565876.5:c.481-475G>T
ENST00000566137.5:n.464G>T
ENST00000567739.5:n.485G>T
ENST00000568202.5:n.1029G>T
ENST00000569296.5:c.779G>T	ENSP00000465949.1:n.779G>T
NM_016256.3:c.1166G>T	NP_057340.2:p.Cys389Phe
XM_011522517.1:c.1166G>T	XP_011520819.1:p.Cys389Phe
XR_243285.1:n.1262G>T
XM_011522517.3:c.1166G>T	XP_011520819.1:p.Cys389Phe
XR_001751908.2:n.1261G>T
XR_001751909.2:n.1265G>T
XR_001751910.2:n.1294G>T
XR_001751911.2:n.1294G>T
XR_001751912.2:n.1298G>T
NM_016256.4:c.1166G>T MANE Select	NP_057340.2:p.Cys389Phe