Canonical Allele Identifier: CA2631583323

Gene: NAGPA

Linked Data

• gnomAD v4: 16-5027794-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5027794G>T , CM000678.2:g.5027794G>T	GRCh38
NC_000016.9:g.5077795G>T , CM000678.1:g.5077795G>T	GRCh37
NC_000016.8:g.5017796G>T	NCBI36
NG_028152.1:g.11148C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312251.8:c.1174+52C>A MANE Select	ENSP00000310998.3:n.1174+52C>A
ENST00000649828.1:c.*346+52C>A	ENSP00000498032.1:n.*346+52C>A
ENST00000312251.7:c.1174+52C>A	ENSP00000310998.3:n.1174+52C>A
ENST00000381955.7:c.1174+52C>A	ENSP00000371381.3:n.1174+52C>A
ENST00000562746.5:c.*346+52C>A	ENSP00000455900.1:n.*346+52C>A
ENST00000563578.5:c.738+1086C>A
ENST00000564397.5:n.2227+52C>A
ENST00000565876.5:c.481-415C>A
ENST00000566137.5:n.472+52C>A
ENST00000567739.5:n.493+52C>A
ENST00000568202.5:n.1037+52C>A
ENST00000569296.5:c.787+52C>A	ENSP00000465949.1:n.787+52C>A
NM_016256.3:c.1174+52C>A	NP_057340.2:n.1174+52C>A
XM_011522517.1:c.1174+52C>A	XP_011520819.1:n.1174+52C>A
XR_243285.1:n.1270+52C>A
XM_011522517.3:c.1174+52C>A	XP_011520819.1:n.1174+52C>A
XR_001751908.2:n.1269+52C>A
XR_001751909.2:n.1273+52C>A
XR_001751910.2:n.1302+52C>A
XR_001751911.2:n.1302+52C>A
XR_001751912.2:n.1306+52C>A
NM_016256.4:c.1174+52C>A MANE Select	NP_057340.2:n.1174+52C>A