Canonical Allele Identifier: CA2620444462

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101770608-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101770608G>T , CM000674.2:g.101770608G>T	GRCh38
NC_000012.11:g.102164386G>T , CM000674.1:g.102164386G>T	GRCh37
NC_000012.10:g.100688517G>T	NCBI36
NG_021243.1:g.65260C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.934-23C>A MANE Select	ENSP00000299314.7:n.934-23C>A
ENST00000299314.11:c.934-23C>A	ENSP00000299314.7:n.934-23C>A
ENST00000549940.5:c.934-23C>A	ENSP00000449150.1:n.934-23C>A
NM_024312.4:c.934-23C>A	NP_077288.2:n.934-23C>A
XM_006719593.2:c.934-23C>A	XP_006719656.1:n.934-23C>A
XM_011538731.1:c.853-23C>A	XP_011537033.1:n.853-23C>A
XM_006719593.3:c.934-23C>A	XP_006719656.1:n.934-23C>A
XM_011538731.2:c.853-23C>A	XP_011537033.1:n.853-23C>A
XM_017019961.1:c.718-23C>A	XP_016875450.1:n.718-23C>A
XM_017019962.2:c.-317C>A	XP_016875451.1:n.-317C>A
NM_024312.5:c.934-23C>A MANE Select	NP_077288.2:n.934-23C>A