Canonical Allele Identifier: CA349989808

Gene: SLC40A1

Linked Data

• MyVariant Identifiers: chr2:g.190439992T>A (hg19) ; chr2:g.189575266T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189575266T>A , CM000664.2:g.189575266T>A	GRCh38
NC_000002.11:g.190439992T>A , CM000664.1:g.190439992T>A	GRCh37
NC_000002.10:g.190148237T>A	NCBI36
NG_009027.1:g.10546A>T , LRG_837:g.10546A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261024.7:c.166A>T MANE Select	ENSP00000261024.3:p.Asn56Tyr
ENST00000261024.6:c.166A>T	ENSP00000261024.2:p.Asn56Tyr
ENST00000418714.1:n.607A>T
ENST00000427241.5:c.166A>T	ENSP00000390005.1:p.Asn56Tyr
ENST00000455320.5:c.166A>T
ENST00000479598.5:n.447A>T
NM_014585.5:c.166A>T , LRG_837t1:c.166A>T	NP_055400.1:p.Asn56Tyr
XM_005246505.1:c.46A>T	XP_005246562.1:p.Asn16Tyr
XM_005246505.2:c.46A>T	XP_005246562.1:p.Asn16Tyr
XM_017003938.2:c.46A>T	XP_016859427.1:p.Asn16Tyr
NM_014585.6:c.166A>T MANE Select	NP_055400.1:p.Asn56Tyr