Canonical Allele Identifier: CA386297491

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102158020A>C (hg19) ; chr12:g.101764242A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101764242A>C , CM000674.2:g.101764242A>C	GRCh38
NC_000012.11:g.102158020A>C , CM000674.1:g.102158020A>C	GRCh37
NC_000012.10:g.100682151A>C	NCBI36
NG_021243.1:g.71626T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.2675T>G MANE Select	ENSP00000299314.7:p.Leu892Trp
ENST00000299314.11:c.2675T>G	ENSP00000299314.7:p.Leu892Trp
NM_024312.4:c.2675T>G	NP_077288.2:p.Leu892Trp
XM_006719593.2:c.2675T>G	XP_006719656.1:p.Leu892Trp
XM_011538731.1:c.2594T>G	XP_011537033.1:p.Leu865Trp
XM_006719593.3:c.2675T>G	XP_006719656.1:p.Leu892Trp
XM_011538731.2:c.2594T>G	XP_011537033.1:p.Leu865Trp
XM_017019961.1:c.2459T>G	XP_016875450.1:p.Leu820Trp
XM_017019962.2:c.1448T>G	XP_016875451.1:p.Leu483Trp
NM_024312.5:c.2675T>G MANE Select	NP_077288.2:p.Leu892Trp