Canonical Allele Identifier: CA349989820

Gene: SLC40A1

Linked Data

• gnomAD v4: 2-189575272-A-C
• MyVariant Identifiers: chr2:g.190439998A>C (hg19) ; chr2:g.189575272A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189575272A>C , CM000664.2:g.189575272A>C	GRCh38
NC_000002.11:g.190439998A>C , CM000664.1:g.190439998A>C	GRCh37
NC_000002.10:g.190148243A>C	NCBI36
NG_009027.1:g.10540T>G , LRG_837:g.10540T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261024.7:c.160T>G MANE Select	ENSP00000261024.3:p.Tyr54Asp
ENST00000261024.6:c.160T>G	ENSP00000261024.2:p.Tyr54Asp
ENST00000418714.1:n.601T>G
ENST00000427241.5:c.160T>G	ENSP00000390005.1:p.Tyr54Asp
ENST00000455320.5:c.160T>G	ENSP00000413549.1:p.Tyr54Asp
ENST00000479598.5:n.441T>G
NM_014585.5:c.160T>G , LRG_837t1:c.160T>G	NP_055400.1:p.Tyr54Asp
XM_005246505.1:c.40T>G	XP_005246562.1:p.Tyr14Asp
XM_005246505.2:c.40T>G	XP_005246562.1:p.Tyr14Asp
XM_017003938.2:c.40T>G	XP_016859427.1:p.Tyr14Asp
NM_014585.6:c.160T>G MANE Select	NP_055400.1:p.Tyr54Asp