Canonical Allele Identifier: CA386301659

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102161808T>C (hg19) ; chr12:g.101768030T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101768030T>C , CM000674.2:g.101768030T>C	GRCh38
NC_000012.11:g.102161808T>C , CM000674.1:g.102161808T>C	GRCh37
NC_000012.10:g.100685939T>C	NCBI36
NG_021243.1:g.67838A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.1408+7A>G MANE Select	ENSP00000299314.7:n.1408+7A>G
ENST00000299314.11:c.1408+7A>G	ENSP00000299314.7:n.1408+7A>G
ENST00000549940.5:c.1415A>G	ENSP00000449150.1:p.Asp472Gly
ENST00000552009.1:n.67+7A>G
NM_024312.4:c.1408+7A>G	NP_077288.2:n.1408+7A>G
XM_006719593.2:c.1408+7A>G	XP_006719656.1:n.1408+7A>G
XM_011538731.1:c.1327+7A>G	XP_011537033.1:n.1327+7A>G
XM_006719593.3:c.1408+7A>G	XP_006719656.1:n.1408+7A>G
XM_011538731.2:c.1327+7A>G	XP_011537033.1:n.1327+7A>G
XM_017019961.1:c.1192+7A>G	XP_016875450.1:n.1192+7A>G
XM_017019962.2:c.181+7A>G	XP_016875451.1:n.181+7A>G
NM_024312.5:c.1408+7A>G MANE Select	NP_077288.2:n.1408+7A>G