Canonical Allele Identifier: CA481320573

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102161918C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101768140C>A , CM000674.2:g.101768140C>A	GRCh38
NC_000012.11:g.102161918C>A , CM000674.1:g.102161918C>A	GRCh37
NC_000012.10:g.100686049C>A	NCBI36
NG_021243.1:g.67728G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.1305G>T MANE Select	ENSP00000299314.7:p.Val435=
ENST00000299314.11:c.1305G>T	ENSP00000299314.7:p.Val435=
ENST00000549940.5:c.1305G>T	ENSP00000449150.1:p.Val435=
NM_024312.4:c.1305G>T	NP_077288.2:p.Val435=
XM_006719593.2:c.1305G>T	XP_006719656.1:p.Val435=
XM_011538731.1:c.1224G>T	XP_011537033.1:p.Val408=
XM_006719593.3:c.1305G>T	XP_006719656.1:p.Val435=
XM_011538731.2:c.1224G>T	XP_011537033.1:p.Val408=
XM_017019961.1:c.1089G>T	XP_016875450.1:p.Val363=
XM_017019962.2:c.78G>T	XP_016875451.1:p.Val26=
NM_024312.5:c.1305G>T MANE Select	NP_077288.2:p.Val435=