Canonical Allele Identifier: CA481320524

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102161894T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101768116T>G , CM000674.2:g.101768116T>G	GRCh38
NC_000012.11:g.102161894T>G , CM000674.1:g.102161894T>G	GRCh37
NC_000012.10:g.100686025T>G	NCBI36
NG_021243.1:g.67752A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.1329A>C MANE Select	ENSP00000299314.7:p.Pro443=
ENST00000299314.11:c.1329A>C	ENSP00000299314.7:p.Pro443=
ENST00000549940.5:c.1329A>C	ENSP00000449150.1:p.Pro443=
NM_024312.4:c.1329A>C	NP_077288.2:p.Pro443=
XM_006719593.2:c.1329A>C	XP_006719656.1:p.Pro443=
XM_011538731.1:c.1248A>C	XP_011537033.1:p.Pro416=
XM_006719593.3:c.1329A>C	XP_006719656.1:p.Pro443=
XM_011538731.2:c.1248A>C	XP_011537033.1:p.Pro416=
XM_017019961.1:c.1113A>C	XP_016875450.1:p.Pro371=
XM_017019962.2:c.102A>C	XP_016875451.1:p.Pro34=
NM_024312.5:c.1329A>C MANE Select	NP_077288.2:p.Pro443=