Canonical Allele Identifier: CA2620427316

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101757520-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101757520C>A , CM000674.2:g.101757520C>A	GRCh38
NC_000012.11:g.102151298C>A , CM000674.1:g.102151298C>A	GRCh37
NC_000012.10:g.100675429C>A	NCBI36
NG_021243.1:g.78348G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3335+52G>T MANE Select	ENSP00000299314.7:n.3335+52G>T
ENST00000299314.11:c.3335+52G>T	ENSP00000299314.7:n.3335+52G>T
ENST00000549194.1:n.201+52G>T
ENST00000549738.5:c.86+52G>T	ENSP00000450161.1:n.86+52G>T
ENST00000550718.1:c.147+52G>T
NM_024312.4:c.3335+52G>T	NP_077288.2:n.3335+52G>T
XM_006719593.2:c.3335+52G>T	XP_006719656.1:n.3335+52G>T
XM_011538731.1:c.3254+52G>T	XP_011537033.1:n.3254+52G>T
XM_006719593.3:c.3335+52G>T	XP_006719656.1:n.3335+52G>T
XM_011538731.2:c.3254+52G>T	XP_011537033.1:n.3254+52G>T
XM_017019961.1:c.3119+52G>T	XP_016875450.1:n.3119+52G>T
XM_017019962.2:c.2108+52G>T	XP_016875451.1:n.2108+52G>T
NM_024312.5:c.3335+52G>T MANE Select	NP_077288.2:n.3335+52G>T