Canonical Allele Identifier: CA349988085

Gene: SLC40A1

Linked Data

• dbSNP Id: rs1450316434
• gnomAD v2: 2-190428775-C-T
• gnomAD v4: 2-189564049-C-T
• MyVariant Identifiers: chr2:g.190428775C>T (hg19) ; chr2:g.189564049C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189564049C>T , CM000664.2:g.189564049C>T	GRCh38
NC_000002.11:g.190428775C>T , CM000664.1:g.190428775C>T	GRCh37
NC_000002.10:g.190137020C>T	NCBI36
NG_009027.1:g.21763G>A , LRG_837:g.21763G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261024.7:c.937G>A MANE Select	ENSP00000261024.3:p.Gly313Ser
ENST00000261024.6:c.937G>A	ENSP00000261024.2:p.Gly313Ser
NM_014585.5:c.937G>A , LRG_837t1:c.937G>A	NP_055400.1:p.Gly313Ser
XM_005246505.1:c.817G>A	XP_005246562.1:p.Gly273Ser
XM_005246505.2:c.817G>A	XP_005246562.1:p.Gly273Ser
XM_017003938.2:c.817G>A	XP_016859427.1:p.Gly273Ser
NM_014585.6:c.937G>A MANE Select	NP_055400.1:p.Gly313Ser