Canonical Allele Identifier: CA386296201

Gene: GNPTAB

Linked Data

• dbSNP Id: rs1952997279
• MyVariant Identifiers: chr12:g.102155400C>G (hg19) ; chr12:g.101761622C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761622C>G , CM000674.2:g.101761622C>G	GRCh38
NC_000012.11:g.102155400C>G , CM000674.1:g.102155400C>G	GRCh37
NC_000012.10:g.100679531C>G	NCBI36
NG_021243.1:g.74246G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.2857G>C MANE Select	ENSP00000299314.7:p.Val953Leu
ENST00000299314.11:c.2857G>C	ENSP00000299314.7:p.Val953Leu
NM_024312.4:c.2857G>C	NP_077288.2:p.Val953Leu
XM_006719593.2:c.2857G>C	XP_006719656.1:p.Val953Leu
XM_011538731.1:c.2776G>C	XP_011537033.1:p.Val926Leu
XM_006719593.3:c.2857G>C	XP_006719656.1:p.Val953Leu
XM_011538731.2:c.2776G>C	XP_011537033.1:p.Val926Leu
XM_017019961.1:c.2641G>C	XP_016875450.1:p.Val881Leu
XM_017019962.2:c.1630G>C	XP_016875451.1:p.Val544Leu
NM_024312.5:c.2857G>C MANE Select	NP_077288.2:p.Val953Leu