Canonical Allele Identifier: CA386299008

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102158602A>C (hg19) ; chr12:g.101764824A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101764824A>C , CM000674.2:g.101764824A>C	GRCh38
NC_000012.11:g.102158602A>C , CM000674.1:g.102158602A>C	GRCh37
NC_000012.10:g.100682733A>C	NCBI36
NG_021243.1:g.71044T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2093T>G MANE Select	ENSP00000299314.7:p.Val698Gly
ENST00000299314.11:c.2093T>G	ENSP00000299314.7:p.Val698Gly
NM_024312.4:c.2093T>G	NP_077288.2:p.Val698Gly
XM_006719593.2:c.2093T>G	XP_006719656.1:p.Val698Gly
XM_011538731.1:c.2012T>G	XP_011537033.1:p.Val671Gly
XM_006719593.3:c.2093T>G	XP_006719656.1:p.Val698Gly
XM_011538731.2:c.2012T>G	XP_011537033.1:p.Val671Gly
XM_017019961.1:c.1877T>G	XP_016875450.1:p.Val626Gly
XM_017019962.2:c.866T>G	XP_016875451.1:p.Val289Gly
NM_024312.5:c.2093T>G MANE Select	NP_077288.2:p.Val698Gly