Canonical Allele Identifier: CA972078

Gene: SLC30A7

Linked Data

• dbSNP Id: rs765888140
• ExAC: 1:101377676 A / T
• gnomAD v2: 1-101377676-A-T
• gnomAD v3: 1-100912120-A-T
• gnomAD v4: 1-100912120-A-T
• MyVariant Identifiers: chr1:g.101377676A>T (hg19) ; chr1:g.100912120A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.100912120A>T , CM000663.2:g.100912120A>T	GRCh38
NC_000001.10:g.101377676A>T , CM000663.1:g.101377676A>T	GRCh37
NC_000001.9:g.101150264A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000357650.9:c.393A>T MANE Select	ENSP00000350278.4:p.Leu131Phe
ENST00000357650.8:c.393A>T	ENSP00000350278.4:p.Leu131Phe
ENST00000370112.8:c.393A>T	ENSP00000359130.4:p.Leu131Phe
NM_001144884.1:c.393A>T	NP_001138356.1:p.Leu131Phe
NM_133496.4:c.393A>T	NP_598003.2:p.Leu131Phe
XM_011540779.1:c.183A>T	XP_011539081.1:p.Leu61Phe
XR_246237.2:n.578A>T
XM_011540779.3:c.183A>T	XP_011539081.1:p.Leu61Phe
XM_017000400.2:c.393A>T	XP_016855889.1:p.Leu131Phe
XM_017000401.2:c.393A>T	XP_016855890.1:p.Leu131Phe
XR_246237.3:n.564A>T
NM_133496.5:c.393A>T MANE Select	NP_598003.2:p.Leu131Phe
NM_001144884.2:c.393A>T	NP_001138356.1:p.Leu131Phe