Canonical Allele Identifier: CA430367214

Gene: SLC40A1

Linked Data

• MyVariant Identifiers: chr2:g.190428356T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189563630T>G , CM000664.2:g.189563630T>G	GRCh38
NC_000002.11:g.190428356T>G , CM000664.1:g.190428356T>G	GRCh37
NC_000002.10:g.190136601T>G	NCBI36
NG_009027.1:g.22182A>C , LRG_837:g.22182A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261024.7:c.1356A>C MANE Select	ENSP00000261024.3:p.Ile452=
ENST00000261024.6:c.1356A>C	ENSP00000261024.2:p.Ile452=
NM_014585.5:c.1356A>C , LRG_837t1:c.1356A>C	NP_055400.1:p.Ile452=
XM_005246505.1:c.1236A>C	XP_005246562.1:p.Ile412=
XM_005246505.2:c.1236A>C	XP_005246562.1:p.Ile412=
XM_017003938.2:c.1236A>C	XP_016859427.1:p.Ile412=
NM_014585.6:c.1356A>C MANE Select	NP_055400.1:p.Ile452=