Canonical Allele Identifier: CA349989672

Gene: SLC40A1

Linked Data

• MyVariant Identifiers: chr2:g.190439922A>G (hg19) ; chr2:g.189575196A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189575196A>G , CM000664.2:g.189575196A>G	GRCh38
NC_000002.11:g.190439922A>G , CM000664.1:g.190439922A>G	GRCh37
NC_000002.10:g.190148167A>G	NCBI36
NG_009027.1:g.10616T>C , LRG_837:g.10616T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261024.7:c.236T>C MANE Select	ENSP00000261024.3:p.Ile79Thr
ENST00000261024.6:c.236T>C	ENSP00000261024.2:p.Ile79Thr
ENST00000418714.1:n.677T>C
ENST00000427241.5:c.236T>C	ENSP00000390005.1:p.Ile79Thr
ENST00000479598.5:n.517T>C
NM_014585.5:c.236T>C , LRG_837t1:c.236T>C	NP_055400.1:p.Ile79Thr
XM_005246505.1:c.116T>C	XP_005246562.1:p.Ile39Thr
XM_005246505.2:c.116T>C	XP_005246562.1:p.Ile39Thr
XM_017003938.2:c.116T>C	XP_016859427.1:p.Ile39Thr
NM_014585.6:c.236T>C MANE Select	NP_055400.1:p.Ile79Thr