Canonical Allele Identifier: CA386299062

Gene: GNPTAB

Linked Data

• dbSNP Id: rs1182027219
• gnomAD v2: 12-102158625-C-G
• gnomAD v4: 12-101764847-C-G
• MyVariant Identifiers: chr12:g.102158625C>G (hg19) ; chr12:g.101764847C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101764847C>G , CM000674.2:g.101764847C>G	GRCh38
NC_000012.11:g.102158625C>G , CM000674.1:g.102158625C>G	GRCh37
NC_000012.10:g.100682756C>G	NCBI36
NG_021243.1:g.71021G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2070G>C MANE Select	ENSP00000299314.7:p.Gln690His
ENST00000299314.11:c.2070G>C	ENSP00000299314.7:p.Gln690His
NM_024312.4:c.2070G>C	NP_077288.2:p.Gln690His
XM_006719593.2:c.2070G>C	XP_006719656.1:p.Gln690His
XM_011538731.1:c.1989G>C	XP_011537033.1:p.Gln663His
XM_006719593.3:c.2070G>C	XP_006719656.1:p.Gln690His
XM_011538731.2:c.1989G>C	XP_011537033.1:p.Gln663His
XM_017019961.1:c.1854G>C	XP_016875450.1:p.Gln618His
XM_017019962.2:c.843G>C	XP_016875451.1:p.Gln281His
NM_024312.5:c.2070G>C MANE Select	NP_077288.2:p.Gln690His