Canonical Allele Identifier: CA2575264935

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101761515-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761515G>T , CM000674.2:g.101761515G>T	GRCh38
NC_000012.11:g.102155293G>T , CM000674.1:g.102155293G>T	GRCh37
NC_000012.10:g.100679424G>T	NCBI36
NG_021243.1:g.74353C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.2915+49C>A MANE Select	ENSP00000299314.7:n.2915+49C>A
ENST00000299314.11:c.2915+49C>A	ENSP00000299314.7:n.2915+49C>A
NM_024312.4:c.2915+49C>A	NP_077288.2:n.2915+49C>A
XM_006719593.2:c.2915+49C>A	XP_006719656.1:n.2915+49C>A
XM_011538731.1:c.2834+49C>A	XP_011537033.1:n.2834+49C>A
XM_006719593.3:c.2915+49C>A	XP_006719656.1:n.2915+49C>A
XM_011538731.2:c.2834+49C>A	XP_011537033.1:n.2834+49C>A
XM_017019961.1:c.2699+49C>A	XP_016875450.1:n.2699+49C>A
XM_017019962.2:c.1688+49C>A	XP_016875451.1:n.1688+49C>A
NM_024312.5:c.2915+49C>A MANE Select	NP_077288.2:n.2915+49C>A