Canonical Allele Identifier: CA349988445

Gene: SLC40A1

Linked Data

• dbSNP Id: rs772310546
• gnomAD v2: 2-190428938-T-G
• gnomAD v4: 2-189564212-T-G
• MyVariant Identifiers: chr2:g.190428938T>G (hg19) ; chr2:g.189564212T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189564212T>G , CM000664.2:g.189564212T>G	GRCh38
NC_000002.11:g.190428938T>G , CM000664.1:g.190428938T>G	GRCh37
NC_000002.10:g.190137183T>G	NCBI36
NG_009027.1:g.21600A>C , LRG_837:g.21600A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261024.7:c.774A>C MANE Select	ENSP00000261024.3:p.Lys258Asn
ENST00000261024.6:c.774A>C	ENSP00000261024.2:p.Lys258Asn
NM_014585.5:c.774A>C , LRG_837t1:c.774A>C	NP_055400.1:p.Lys258Asn
XM_005246505.1:c.654A>C	XP_005246562.1:p.Lys218Asn
XM_005246505.2:c.654A>C	XP_005246562.1:p.Lys218Asn
XM_017003938.2:c.654A>C	XP_016859427.1:p.Lys218Asn
NM_014585.6:c.774A>C MANE Select	NP_055400.1:p.Lys258Asn