Canonical Allele Identifier: CA343333

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 39020
• ClinVar RCV Id: RCV000032285 ; RCV000250304 ; RCV000344025 ; RCV000437039 ; RCV001079378
• dbSNP Id: rs7958709
• ExAC: 12:102164255 T / G
• gnomAD v2: 12-102164255-T-G
• gnomAD v3: 12-101770477-T-G
• gnomAD v4: 12-101770477-T-G
• MyVariant Identifiers: chr12:g.102164255T>G (hg19) ; chr12:g.101770477T>G (hg38)
• PubMed: PMID:19617216 ; PMID:20301728

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101770477T>G , CM000674.2:g.101770477T>G	GRCh38
NC_000012.11:g.102164255T>G , CM000674.1:g.102164255T>G	GRCh37
NC_000012.10:g.100688386T>G	NCBI36
NG_021243.1:g.65391A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.1042A>C MANE Select	ENSP00000299314.7:p.Ile348Leu
ENST00000299314.11:c.1042A>C	ENSP00000299314.7:p.Ile348Leu
ENST00000549940.5:c.1042A>C	ENSP00000449150.1:p.Ile348Leu
NM_024312.4:c.1042A>C	NP_077288.2:p.Ile348Leu
XM_006719593.2:c.1042A>C	XP_006719656.1:p.Ile348Leu
XM_011538731.1:c.961A>C	XP_011537033.1:p.Ile321Leu
XM_006719593.3:c.1042A>C	XP_006719656.1:p.Ile348Leu
XM_011538731.2:c.961A>C	XP_011537033.1:p.Ile321Leu
XM_017019961.1:c.826A>C	XP_016875450.1:p.Ile276Leu
XM_017019962.2:c.-186A>C	XP_016875451.1:n.-186A>C
NM_024312.5:c.1042A>C MANE Select	NP_077288.2:p.Ile348Leu