Canonical Allele Identifier: CA386299107

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102158647A>G (hg19) ; chr12:g.101764869A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101764869A>G , CM000674.2:g.101764869A>G	GRCh38
NC_000012.11:g.102158647A>G , CM000674.1:g.102158647A>G	GRCh37
NC_000012.10:g.100682778A>G	NCBI36
NG_021243.1:g.70999T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2048T>C MANE Select	ENSP00000299314.7:p.Val683Ala
ENST00000299314.11:c.2048T>C	ENSP00000299314.7:p.Val683Ala
NM_024312.4:c.2048T>C	NP_077288.2:p.Val683Ala
XM_006719593.2:c.2048T>C	XP_006719656.1:p.Val683Ala
XM_011538731.1:c.1967T>C	XP_011537033.1:p.Val656Ala
XM_006719593.3:c.2048T>C	XP_006719656.1:p.Val683Ala
XM_011538731.2:c.1967T>C	XP_011537033.1:p.Val656Ala
XM_017019961.1:c.1832T>C	XP_016875450.1:p.Val611Ala
XM_017019962.2:c.821T>C	XP_016875451.1:p.Val274Ala
NM_024312.5:c.2048T>C MANE Select	NP_077288.2:p.Val683Ala