Canonical Allele Identifier: CA386294040

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102151429C>G (hg19) ; chr12:g.101757651C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101757651C>G , CM000674.2:g.101757651C>G	GRCh38
NC_000012.11:g.102151429C>G , CM000674.1:g.102151429C>G	GRCh37
NC_000012.10:g.100675560C>G	NCBI36
NG_021243.1:g.78217G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3256G>C MANE Select	ENSP00000299314.7:p.Val1086Leu
ENST00000299314.11:c.3256G>C	ENSP00000299314.7:p.Val1086Leu
ENST00000549194.1:n.122G>C
ENST00000549738.5:c.7G>C	ENSP00000450161.1:p.Val3Leu
ENST00000550718.1:c.68G>C
NM_024312.4:c.3256G>C	NP_077288.2:p.Val1086Leu
XM_006719593.2:c.3256G>C	XP_006719656.1:p.Val1086Leu
XM_011538731.1:c.3175G>C	XP_011537033.1:p.Val1059Leu
XM_006719593.3:c.3256G>C	XP_006719656.1:p.Val1086Leu
XM_011538731.2:c.3175G>C	XP_011537033.1:p.Val1059Leu
XM_017019961.1:c.3040G>C	XP_016875450.1:p.Val1014Leu
XM_017019962.2:c.2029G>C	XP_016875451.1:p.Val677Leu
NM_024312.5:c.3256G>C MANE Select	NP_077288.2:p.Val1086Leu