Canonical Allele Identifier: CA386299059

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102158624C>G (hg19) ; chr12:g.101764846C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101764846C>G , CM000674.2:g.101764846C>G	GRCh38
NC_000012.11:g.102158624C>G , CM000674.1:g.102158624C>G	GRCh37
NC_000012.10:g.100682755C>G	NCBI36
NG_021243.1:g.71022G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2071G>C MANE Select	ENSP00000299314.7:p.Glu691Gln
ENST00000299314.11:c.2071G>C	ENSP00000299314.7:p.Glu691Gln
NM_024312.4:c.2071G>C	NP_077288.2:p.Glu691Gln
XM_006719593.2:c.2071G>C	XP_006719656.1:p.Glu691Gln
XM_011538731.1:c.1990G>C	XP_011537033.1:p.Glu664Gln
XM_006719593.3:c.2071G>C	XP_006719656.1:p.Glu691Gln
XM_011538731.2:c.1990G>C	XP_011537033.1:p.Glu664Gln
XM_017019961.1:c.1855G>C	XP_016875450.1:p.Glu619Gln
XM_017019962.2:c.844G>C	XP_016875451.1:p.Glu282Gln
NM_024312.5:c.2071G>C MANE Select	NP_077288.2:p.Glu691Gln