Canonical Allele Identifier: CA242456791

Gene: GNPTAB

Linked Data

• dbSNP Id: rs368743268
• gnomAD v4: 12-101764877-T-C
• MyVariant Identifiers: chr12:g.102158655T>C (hg19) ; chr12:g.101764877T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101764877T>C , CM000674.2:g.101764877T>C	GRCh38
NC_000012.11:g.102158655T>C , CM000674.1:g.102158655T>C	GRCh37
NC_000012.10:g.100682786T>C	NCBI36
NG_021243.1:g.70991A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2040A>G MANE Select	ENSP00000299314.7:p.Arg680=
ENST00000299314.11:c.2040A>G	ENSP00000299314.7:p.Arg680=
NM_024312.4:c.2040A>G	NP_077288.2:p.Arg680=
XM_006719593.2:c.2040A>G	XP_006719656.1:p.Arg680=
XM_011538731.1:c.1959A>G	XP_011537033.1:p.Arg653=
XM_006719593.3:c.2040A>G	XP_006719656.1:p.Arg680=
XM_011538731.2:c.1959A>G	XP_011537033.1:p.Arg653=
XM_017019961.1:c.1824A>G	XP_016875450.1:p.Arg608=
XM_017019962.2:c.813A>G	XP_016875451.1:p.Arg271=
NM_024312.5:c.2040A>G MANE Select	NP_077288.2:p.Arg680=