Canonical Allele Identifier: CA386302024

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102161908C>G (hg19) ; chr12:g.101768130C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101768130C>G , CM000674.2:g.101768130C>G	GRCh38
NC_000012.11:g.102161908C>G , CM000674.1:g.102161908C>G	GRCh37
NC_000012.10:g.100686039C>G	NCBI36
NG_021243.1:g.67738G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.1315G>C MANE Select	ENSP00000299314.7:p.Ala439Pro
ENST00000299314.11:c.1315G>C	ENSP00000299314.7:p.Ala439Pro
ENST00000549940.5:c.1315G>C	ENSP00000449150.1:p.Ala439Pro
NM_024312.4:c.1315G>C	NP_077288.2:p.Ala439Pro
XM_006719593.2:c.1315G>C	XP_006719656.1:p.Ala439Pro
XM_011538731.1:c.1234G>C	XP_011537033.1:p.Ala412Pro
XM_006719593.3:c.1315G>C	XP_006719656.1:p.Ala439Pro
XM_011538731.2:c.1234G>C	XP_011537033.1:p.Ala412Pro
XM_017019961.1:c.1099G>C	XP_016875450.1:p.Ala367Pro
XM_017019962.2:c.88G>C	XP_016875451.1:p.Ala30Pro
NM_024312.5:c.1315G>C MANE Select	NP_077288.2:p.Ala439Pro