Canonical Allele Identifier: CA2620450217

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101796654-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101796654G>T , CM000674.2:g.101796654G>T	GRCh38
NC_000012.11:g.102190432G>T , CM000674.1:g.102190432G>T	GRCh37
NC_000012.10:g.100714563G>T	NCBI36
NG_021243.1:g.39214C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.203+23C>A MANE Select	ENSP00000299314.7:n.203+23C>A
ENST00000647144.1:n.323+23C>A
ENST00000299314.11:c.203+23C>A	ENSP00000299314.7:n.203+23C>A
ENST00000392919.4:c.203+23C>A	ENSP00000376651.4:n.203+23C>A
ENST00000549165.1:c.*19C>A	ENSP00000450413.1:n.*19C>A
ENST00000549940.5:c.203+23C>A	ENSP00000449150.1:n.203+23C>A
NM_024312.4:c.203+23C>A	NP_077288.2:n.203+23C>A
XM_006719593.2:c.203+23C>A	XP_006719656.1:n.203+23C>A
XM_011538731.1:c.122+23C>A	XP_011537033.1:n.122+23C>A
XM_006719593.3:c.203+23C>A	XP_006719656.1:n.203+23C>A
XM_011538731.2:c.122+23C>A	XP_011537033.1:n.122+23C>A
XM_017019961.1:c.-14+23C>A	XP_016875450.1:n.-14+23C>A
XM_017019962.2:c.-1148+23C>A	XP_016875451.1:n.-1148+23C>A
NM_024312.5:c.203+23C>A MANE Select	NP_077288.2:n.203+23C>A