Canonical Allele Identifier: CA386296493

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102155529A>C (hg19) ; chr12:g.101761751A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761751A>C , CM000674.2:g.101761751A>C	GRCh38
NC_000012.11:g.102155529A>C , CM000674.1:g.102155529A>C	GRCh37
NC_000012.10:g.100679660A>C	NCBI36
NG_021243.1:g.74117T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2728T>G MANE Select	ENSP00000299314.7:p.Leu910Val
ENST00000299314.11:c.2728T>G	ENSP00000299314.7:p.Leu910Val
NM_024312.4:c.2728T>G	NP_077288.2:p.Leu910Val
XM_006719593.2:c.2728T>G	XP_006719656.1:p.Leu910Val
XM_011538731.1:c.2647T>G	XP_011537033.1:p.Leu883Val
XM_006719593.3:c.2728T>G	XP_006719656.1:p.Leu910Val
XM_011538731.2:c.2647T>G	XP_011537033.1:p.Leu883Val
XM_017019961.1:c.2512T>G	XP_016875450.1:p.Leu838Val
XM_017019962.2:c.1501T>G	XP_016875451.1:p.Leu501Val
NM_024312.5:c.2728T>G MANE Select	NP_077288.2:p.Leu910Val