Canonical Allele Identifier: CA242456025

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 2928555
• ClinVar RCV Id: RCV003789329
• dbSNP Id: rs982316683
• gnomAD v4: 12-101764238-T-C
• MyVariant Identifiers: chr12:g.102158016T>C (hg19) ; chr12:g.101764238T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101764238T>C , CM000674.2:g.101764238T>C	GRCh38
NC_000012.11:g.102158016T>C , CM000674.1:g.102158016T>C	GRCh37
NC_000012.10:g.100682147T>C	NCBI36
NG_021243.1:g.71630A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.2679A>G MANE Select	ENSP00000299314.7:p.Pro893=
ENST00000299314.11:c.2679A>G	ENSP00000299314.7:p.Pro893=
NM_024312.4:c.2679A>G	NP_077288.2:p.Pro893=
XM_006719593.2:c.2679A>G	XP_006719656.1:p.Pro893=
XM_011538731.1:c.2598A>G	XP_011537033.1:p.Pro866=
XM_006719593.3:c.2679A>G	XP_006719656.1:p.Pro893=
XM_011538731.2:c.2598A>G	XP_011537033.1:p.Pro866=
XM_017019961.1:c.2463A>G	XP_016875450.1:p.Pro821=
XM_017019962.2:c.1452A>G	XP_016875451.1:p.Pro484=
NM_024312.5:c.2679A>G MANE Select	NP_077288.2:p.Pro893=