Canonical Allele Identifier: CA341170657

Gene: SLC30A7

Linked Data

• MyVariant Identifiers: chr1:g.101377681C>A (hg19) ; chr1:g.100912125C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.100912125C>A , CM000663.2:g.100912125C>A	GRCh38
NC_000001.10:g.101377681C>A , CM000663.1:g.101377681C>A	GRCh37
NC_000001.9:g.101150269C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000357650.9:c.398C>A MANE Select	ENSP00000350278.4:p.Pro133His
ENST00000357650.8:c.398C>A	ENSP00000350278.4:p.Pro133His
ENST00000370112.8:c.398C>A	ENSP00000359130.4:p.Pro133His
NM_001144884.1:c.398C>A	NP_001138356.1:p.Pro133His
NM_133496.4:c.398C>A	NP_598003.2:p.Pro133His
XM_011540779.1:c.188C>A	XP_011539081.1:p.Pro63His
XR_246237.2:n.583C>A
XM_011540779.3:c.188C>A	XP_011539081.1:p.Pro63His
XM_017000400.2:c.398C>A	XP_016855889.1:p.Pro133His
XM_017000401.2:c.398C>A	XP_016855890.1:p.Pro133His
XR_246237.3:n.569C>A
NM_133496.5:c.398C>A MANE Select	NP_598003.2:p.Pro133His
NM_001144884.2:c.398C>A	NP_001138356.1:p.Pro133His