Canonical Allele Identifier: CA343374

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 39053
• ClinVar RCV Id: RCV000032318 ; RCV002514130
• dbSNP Id: rs281864953
• MyVariant Identifiers: chr12:g.102183797C>A (hg19) ; chr12:g.101790019C>A (hg38)
• PubMed: PMID:19659762 ; PMID:20301728

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101790019C>A , CM000674.2:g.101790019C>A	GRCh38
NC_000012.11:g.102183797C>A , CM000674.1:g.102183797C>A	GRCh37
NC_000012.10:g.100707928C>A	NCBI36
NG_021243.1:g.45849G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.242G>T MANE Select	ENSP00000299314.7:p.Trp81Leu
ENST00000299314.11:c.242G>T	ENSP00000299314.7:p.Trp81Leu
ENST00000549940.5:c.242G>T	ENSP00000449150.1:p.Trp81Leu
ENST00000550352.1:n.36G>T
NM_024312.4:c.242G>T	NP_077288.2:p.Trp81Leu
XM_006719593.2:c.242G>T	XP_006719656.1:p.Trp81Leu
XM_011538731.1:c.161G>T	XP_011537033.1:p.Trp54Leu
XM_006719593.3:c.242G>T	XP_006719656.1:p.Trp81Leu
XM_011538731.2:c.161G>T	XP_011537033.1:p.Trp54Leu
XM_017019961.1:c.26G>T	XP_016875450.1:p.Trp9Leu
XM_017019962.2:c.-1109G>T	XP_016875451.1:n.-1109G>T
NM_024312.5:c.242G>T MANE Select	NP_077288.2:p.Trp81Leu