Canonical Allele Identifier: CA430502843

Gene: SLC40A1

Linked Data

• dbSNP Id: rs1039029115
• gnomAD v3: 2-189565582-G-T
• gnomAD v4: 2-189565582-G-T
• MyVariant Identifiers: chr2:g.190430308G>T (hg19) ; chr2:g.189565582G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189565582G>T , CM000664.2:g.189565582G>T	GRCh38
NC_000002.11:g.190430308G>T , CM000664.1:g.190430308G>T	GRCh37
NC_000002.10:g.190138553G>T	NCBI36
NG_009027.1:g.20230C>A , LRG_837:g.20230C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261024.7:c.532C>A MANE Select	ENSP00000261024.3:p.Arg178=
ENST00000261024.6:c.532C>A	ENSP00000261024.2:p.Arg178=
ENST00000427241.5:c.532C>A	ENSP00000390005.1:p.Arg178=
NM_014585.5:c.532C>A , LRG_837t1:c.532C>A	NP_055400.1:p.Arg178=
XM_005246505.1:c.412C>A	XP_005246562.1:p.Arg138=
XM_005246505.2:c.412C>A	XP_005246562.1:p.Arg138=
XM_017003938.2:c.412C>A	XP_016859427.1:p.Arg138=
NM_014585.6:c.532C>A MANE Select	NP_055400.1:p.Arg178=