Canonical Allele Identifier: CA349988880

Gene: SLC40A1

Linked Data

• MyVariant Identifiers: chr2:g.190430258C>A (hg19) ; chr2:g.189565532C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189565532C>A , CM000664.2:g.189565532C>A	GRCh38
NC_000002.11:g.190430258C>A , CM000664.1:g.190430258C>A	GRCh37
NC_000002.10:g.190138503C>A	NCBI36
NG_009027.1:g.20280G>T , LRG_837:g.20280G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261024.7:c.582G>T MANE Select	ENSP00000261024.3:p.Gln194His
ENST00000261024.6:c.582G>T	ENSP00000261024.2:p.Gln194His
ENST00000427241.5:c.582G>T	ENSP00000390005.1:p.Gln194His
NM_014585.5:c.582G>T , LRG_837t1:c.582G>T	NP_055400.1:p.Gln194His
XM_005246505.1:c.462G>T	XP_005246562.1:p.Gln154His
XM_005246505.2:c.462G>T	XP_005246562.1:p.Gln154His
XM_017003938.2:c.462G>T	XP_016859427.1:p.Gln154His
NM_014585.6:c.582G>T MANE Select	NP_055400.1:p.Gln194His