Canonical Allele Identifier: CA386301927

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102161866C>A (hg19) ; chr12:g.101768088C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101768088C>A , CM000674.2:g.101768088C>A	GRCh38
NC_000012.11:g.102161866C>A , CM000674.1:g.102161866C>A	GRCh37
NC_000012.10:g.100685997C>A	NCBI36
NG_021243.1:g.67780G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.1357G>T MANE Select	ENSP00000299314.7:p.Asp453Tyr
ENST00000299314.11:c.1357G>T	ENSP00000299314.7:p.Asp453Tyr
ENST00000549940.5:c.1357G>T	ENSP00000449150.1:p.Asp453Tyr
ENST00000552009.1:n.16G>T
NM_024312.4:c.1357G>T	NP_077288.2:p.Asp453Tyr
XM_006719593.2:c.1357G>T	XP_006719656.1:p.Asp453Tyr
XM_011538731.1:c.1276G>T	XP_011537033.1:p.Asp426Tyr
XM_006719593.3:c.1357G>T	XP_006719656.1:p.Asp453Tyr
XM_011538731.2:c.1276G>T	XP_011537033.1:p.Asp426Tyr
XM_017019961.1:c.1141G>T	XP_016875450.1:p.Asp381Tyr
XM_017019962.2:c.130G>T	XP_016875451.1:p.Asp44Tyr
NM_024312.5:c.1357G>T MANE Select	NP_077288.2:p.Asp453Tyr