Canonical Allele Identifier: CA349989671

Gene: SLC40A1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261024.7:c.236T>G MANE Select	ENSP00000261024.3:p.Ile79Ser
ENST00000261024.6:c.236T>G	ENSP00000261024.2:p.Ile79Ser
ENST00000418714.1:n.677T>G
ENST00000427241.5:c.236T>G	ENSP00000390005.1:p.Ile79Ser
ENST00000479598.5:n.517T>G
NM_014585.5:c.236T>G , LRG_837t1:c.236T>G	NP_055400.1:p.Ile79Ser
XM_005246505.1:c.116T>G	XP_005246562.1:p.Ile39Ser
XM_005246505.2:c.116T>G	XP_005246562.1:p.Ile39Ser
XM_017003938.2:c.116T>G	XP_016859427.1:p.Ile39Ser
NM_014585.6:c.236T>G MANE Select	NP_055400.1:p.Ile79Ser