Canonical Allele Identifier: CA386298998

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101764819-T-C
• MyVariant Identifiers: chr12:g.102158597T>C (hg19) ; chr12:g.101764819T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101764819T>C , CM000674.2:g.101764819T>C	GRCh38
NC_000012.11:g.102158597T>C , CM000674.1:g.102158597T>C	GRCh37
NC_000012.10:g.100682728T>C	NCBI36
NG_021243.1:g.71049A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2098A>G MANE Select	ENSP00000299314.7:p.Ile700Val
ENST00000299314.11:c.2098A>G	ENSP00000299314.7:p.Ile700Val
NM_024312.4:c.2098A>G	NP_077288.2:p.Ile700Val
XM_006719593.2:c.2098A>G	XP_006719656.1:p.Ile700Val
XM_011538731.1:c.2017A>G	XP_011537033.1:p.Ile673Val
XM_006719593.3:c.2098A>G	XP_006719656.1:p.Ile700Val
XM_011538731.2:c.2017A>G	XP_011537033.1:p.Ile673Val
XM_017019961.1:c.1882A>G	XP_016875450.1:p.Ile628Val
XM_017019962.2:c.871A>G	XP_016875451.1:p.Ile291Val
NM_024312.5:c.2098A>G MANE Select	NP_077288.2:p.Ile700Val