Canonical Allele Identifier: CA2580085722

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 2047122
• ClinVar RCV Id: RCV002904063
• gnomAD v4: 12-101770402-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101770402G>T , CM000674.2:g.101770402G>T	GRCh38
NC_000012.11:g.102164180G>T , CM000674.1:g.102164180G>T	GRCh37
NC_000012.10:g.100688311G>T	NCBI36
NG_021243.1:g.65466C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.1113+4C>A MANE Select	ENSP00000299314.7:n.1113+4C>A
ENST00000299314.11:c.1113+4C>A	ENSP00000299314.7:n.1113+4C>A
ENST00000549940.5:c.1113+4C>A	ENSP00000449150.1:n.1113+4C>A
NM_024312.4:c.1113+4C>A	NP_077288.2:n.1113+4C>A
XM_006719593.2:c.1113+4C>A	XP_006719656.1:n.1113+4C>A
XM_011538731.1:c.1032+4C>A	XP_011537033.1:n.1032+4C>A
XM_006719593.3:c.1113+4C>A	XP_006719656.1:n.1113+4C>A
XM_011538731.2:c.1032+4C>A	XP_011537033.1:n.1032+4C>A
XM_017019961.1:c.897+4C>A	XP_016875450.1:n.897+4C>A
XM_017019962.2:c.-115+4C>A	XP_016875451.1:n.-115+4C>A
NM_024312.5:c.1113+4C>A MANE Select	NP_077288.2:n.1113+4C>A