Canonical Allele Identifier: CA349988284

Gene: SLC40A1

Linked Data

• dbSNP Id: rs1431125943
• gnomAD v2: 2-190428865-T-C
• gnomAD v4: 2-189564139-T-C
• MyVariant Identifiers: chr2:g.190428865T>C (hg19) ; chr2:g.189564139T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189564139T>C , CM000664.2:g.189564139T>C	GRCh38
NC_000002.11:g.190428865T>C , CM000664.1:g.190428865T>C	GRCh37
NC_000002.10:g.190137110T>C	NCBI36
NG_009027.1:g.21673A>G , LRG_837:g.21673A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261024.7:c.847A>G MANE Select	ENSP00000261024.3:p.Thr283Ala
ENST00000261024.6:c.847A>G	ENSP00000261024.2:p.Thr283Ala
NM_014585.5:c.847A>G , LRG_837t1:c.847A>G	NP_055400.1:p.Thr283Ala
XM_005246505.1:c.727A>G	XP_005246562.1:p.Thr243Ala
XM_005246505.2:c.727A>G	XP_005246562.1:p.Thr243Ala
XM_017003938.2:c.727A>G	XP_016859427.1:p.Thr243Ala
NM_014585.6:c.847A>G MANE Select	NP_055400.1:p.Thr283Ala