Canonical Allele Identifier: CA2620427333

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101757549-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101757549G>T , CM000674.2:g.101757549G>T	GRCh38
NC_000012.11:g.102151327G>T , CM000674.1:g.102151327G>T	GRCh37
NC_000012.10:g.100675458G>T	NCBI36
NG_021243.1:g.78319C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3335+23C>A MANE Select	ENSP00000299314.7:n.3335+23C>A
ENST00000299314.11:c.3335+23C>A	ENSP00000299314.7:n.3335+23C>A
ENST00000549194.1:n.201+23C>A
ENST00000549738.5:c.86+23C>A	ENSP00000450161.1:n.86+23C>A
ENST00000550718.1:c.147+23C>A
NM_024312.4:c.3335+23C>A	NP_077288.2:n.3335+23C>A
XM_006719593.2:c.3335+23C>A	XP_006719656.1:n.3335+23C>A
XM_011538731.1:c.3254+23C>A	XP_011537033.1:n.3254+23C>A
XM_006719593.3:c.3335+23C>A	XP_006719656.1:n.3335+23C>A
XM_011538731.2:c.3254+23C>A	XP_011537033.1:n.3254+23C>A
XM_017019961.1:c.3119+23C>A	XP_016875450.1:n.3119+23C>A
XM_017019962.2:c.2108+23C>A	XP_016875451.1:n.2108+23C>A
NM_024312.5:c.3335+23C>A MANE Select	NP_077288.2:n.3335+23C>A