Canonical Allele Identifier: CA2631583280

Gene: NAGPA

Linked Data

• gnomAD v4: 16-5027776-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5027776C>A , CM000678.2:g.5027776C>A	GRCh38
NC_000016.9:g.5077777C>A , CM000678.1:g.5077777C>A	GRCh37
NC_000016.8:g.5017778C>A	NCBI36
NG_028152.1:g.11166G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312251.8:c.1174+70G>T MANE Select	ENSP00000310998.3:n.1174+70G>T
ENST00000649828.1:c.*346+70G>T	ENSP00000498032.1:n.*346+70G>T
ENST00000312251.7:c.1174+70G>T	ENSP00000310998.3:n.1174+70G>T
ENST00000381955.7:c.1174+70G>T	ENSP00000371381.3:n.1174+70G>T
ENST00000562746.5:c.*346+70G>T	ENSP00000455900.1:n.*346+70G>T
ENST00000563578.5:c.738+1104G>T
ENST00000564397.5:n.2227+70G>T
ENST00000565876.5:c.481-397G>T
ENST00000566137.5:n.472+70G>T
ENST00000567739.5:n.493+70G>T
ENST00000568202.5:n.1037+70G>T
ENST00000569296.5:c.787+70G>T	ENSP00000465949.1:n.787+70G>T
NM_016256.3:c.1174+70G>T	NP_057340.2:n.1174+70G>T
XM_011522517.1:c.1174+70G>T	XP_011520819.1:n.1174+70G>T
XR_243285.1:n.1270+70G>T
XM_011522517.3:c.1174+70G>T	XP_011520819.1:n.1174+70G>T
XR_001751908.2:n.1269+70G>T
XR_001751909.2:n.1273+70G>T
XR_001751910.2:n.1302+70G>T
XR_001751911.2:n.1302+70G>T
XR_001751912.2:n.1306+70G>T
NM_016256.4:c.1174+70G>T MANE Select	NP_057340.2:n.1174+70G>T