Canonical Allele Identifier: CA620717989

Gene: NAGPA

Linked Data

• dbSNP Id: rs551060811
• gnomAD v2: 16-5077771-C-T
• gnomAD v3: 16-5027770-C-T
• gnomAD v4: 16-5027770-C-T
• MyVariant Identifiers: chr16:g.5077771C>T (hg19) ; chr16:g.5027770C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5027770C>T , CM000678.2:g.5027770C>T	GRCh38
NC_000016.9:g.5077771C>T , CM000678.1:g.5077771C>T	GRCh37
NC_000016.8:g.5017772C>T	NCBI36
NG_028152.1:g.11172G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312251.8:c.1174+76G>A MANE Select	ENSP00000310998.3:n.1174+76G>A
ENST00000649828.1:c.*346+76G>A	ENSP00000498032.1:n.*346+76G>A
ENST00000312251.7:c.1174+76G>A	ENSP00000310998.3:n.1174+76G>A
ENST00000381955.7:c.1174+76G>A	ENSP00000371381.3:n.1174+76G>A
ENST00000562746.5:c.*346+76G>A	ENSP00000455900.1:n.*346+76G>A
ENST00000563578.5:c.738+1110G>A
ENST00000564397.5:n.2227+76G>A
ENST00000565876.5:c.481-391G>A
ENST00000566137.5:n.472+76G>A
ENST00000567739.5:n.493+76G>A
ENST00000568202.5:n.1037+76G>A
ENST00000569296.5:c.787+76G>A	ENSP00000465949.1:n.787+76G>A
NM_016256.3:c.1174+76G>A	NP_057340.2:n.1174+76G>A
XM_011522517.1:c.1174+76G>A	XP_011520819.1:n.1174+76G>A
XR_243285.1:n.1270+76G>A
XM_011522517.3:c.1174+76G>A	XP_011520819.1:n.1174+76G>A
XR_001751908.2:n.1269+76G>A
XR_001751909.2:n.1273+76G>A
XR_001751910.2:n.1302+76G>A
XR_001751911.2:n.1302+76G>A
XR_001751912.2:n.1306+76G>A
NM_016256.4:c.1174+76G>A MANE Select	NP_057340.2:n.1174+76G>A