Canonical Allele Identifier: CA481326214

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102179833A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101786055A>G , CM000674.2:g.101786055A>G	GRCh38
NC_000012.11:g.102179833A>G , CM000674.1:g.102179833A>G	GRCh37
NC_000012.10:g.100703964A>G	NCBI36
NG_021243.1:g.49813T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.528T>C MANE Select	ENSP00000299314.7:p.Pro176=
ENST00000299314.11:c.528T>C	ENSP00000299314.7:p.Pro176=
ENST00000549940.5:c.528T>C	ENSP00000449150.1:p.Pro176=
ENST00000550352.1:n.322T>C
ENST00000552681.1:c.162T>C	ENSP00000449217.1:p.Pro54=
NM_024312.4:c.528T>C	NP_077288.2:p.Pro176=
XM_006719593.2:c.528T>C	XP_006719656.1:p.Pro176=
XM_011538731.1:c.447T>C	XP_011537033.1:p.Pro149=
XM_006719593.3:c.528T>C	XP_006719656.1:p.Pro176=
XM_011538731.2:c.447T>C	XP_011537033.1:p.Pro149=
XM_017019961.1:c.312T>C	XP_016875450.1:p.Pro104=
XM_017019962.2:c.-823T>C	XP_016875451.1:n.-823T>C
NM_024312.5:c.528T>C MANE Select	NP_077288.2:p.Pro176=