Canonical Allele Identifier: CA430367322

Gene: SLC40A1

Linked Data

• MyVariant Identifiers: chr2:g.190436442T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189571716T>C , CM000664.2:g.189571716T>C	GRCh38
NC_000002.11:g.190436442T>C , CM000664.1:g.190436442T>C	GRCh37
NC_000002.10:g.190144687T>C	NCBI36
NG_009027.1:g.14096A>G , LRG_837:g.14096A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261024.7:c.513A>G MANE Select	ENSP00000261024.3:p.Ala171=
ENST00000261024.6:c.513A>G	ENSP00000261024.2:p.Ala171=
ENST00000427241.5:c.513A>G	ENSP00000390005.1:p.Ala171=
NM_014585.5:c.513A>G , LRG_837t1:c.513A>G	NP_055400.1:p.Ala171=
XM_005246505.1:c.393A>G	XP_005246562.1:p.Ala131=
XM_005246505.2:c.393A>G	XP_005246562.1:p.Ala131=
XM_017003938.2:c.393A>G	XP_016859427.1:p.Ala131=
NM_014585.6:c.513A>G MANE Select	NP_055400.1:p.Ala171=