Canonical Allele Identifier: CA2620448892

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101830434-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101830434G>T , CM000674.2:g.101830434G>T	GRCh38
NC_000012.11:g.102224212G>T , CM000674.1:g.102224212G>T	GRCh37
NC_000012.10:g.100748343G>T	NCBI36
NG_021243.1:g.5434C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.117+125C>A MANE Select	ENSP00000299314.7:n.117+125C>A
ENST00000647144.1:n.105+125C>A
ENST00000299314.11:c.117+125C>A	ENSP00000299314.7:n.117+125C>A
ENST00000392919.4:c.117+125C>A	ENSP00000376651.4:n.117+125C>A
ENST00000549165.1:c.117+125C>A	ENSP00000450413.1:n.117+125C>A
ENST00000549940.5:c.117+125C>A	ENSP00000449150.1:n.117+125C>A
NM_024312.4:c.117+125C>A	NP_077288.2:n.117+125C>A
XM_006719593.2:c.117+125C>A	XP_006719656.1:n.117+125C>A
XM_006719593.3:c.117+125C>A	XP_006719656.1:n.117+125C>A
XM_017019961.1:c.-100+192C>A	XP_016875450.1:n.-100+192C>A
XM_017019962.2:c.-1234+125C>A	XP_016875451.1:n.-1234+125C>A
NM_024312.5:c.117+125C>A MANE Select	NP_077288.2:n.117+125C>A