Canonical Allele Identifier: CA386304997

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102179897G>C (hg19) ; chr12:g.101786119G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101786119G>C , CM000674.2:g.101786119G>C	GRCh38
NC_000012.11:g.102179897G>C , CM000674.1:g.102179897G>C	GRCh37
NC_000012.10:g.100704028G>C	NCBI36
NG_021243.1:g.49749C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.464C>G MANE Select	ENSP00000299314.7:p.Pro155Arg
ENST00000299314.11:c.464C>G	ENSP00000299314.7:p.Pro155Arg
ENST00000549940.5:c.464C>G	ENSP00000449150.1:p.Pro155Arg
ENST00000550352.1:n.258C>G
ENST00000552681.1:c.98C>G	ENSP00000449217.1:p.Pro33Arg
NM_024312.4:c.464C>G	NP_077288.2:p.Pro155Arg
XM_006719593.2:c.464C>G	XP_006719656.1:p.Pro155Arg
XM_011538731.1:c.383C>G	XP_011537033.1:p.Pro128Arg
XM_006719593.3:c.464C>G	XP_006719656.1:p.Pro155Arg
XM_011538731.2:c.383C>G	XP_011537033.1:p.Pro128Arg
XM_017019961.1:c.248C>G	XP_016875450.1:p.Pro83Arg
XM_017019962.2:c.-887C>G	XP_016875451.1:n.-887C>G
NM_024312.5:c.464C>G MANE Select	NP_077288.2:p.Pro155Arg