Canonical Allele Identifier: CA349989736

Gene: SLC40A1

Linked Data

• gnomAD v4: 2-189575230-C-G
• MyVariant Identifiers: chr2:g.190439956C>G (hg19) ; chr2:g.189575230C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189575230C>G , CM000664.2:g.189575230C>G	GRCh38
NC_000002.11:g.190439956C>G , CM000664.1:g.190439956C>G	GRCh37
NC_000002.10:g.190148201C>G	NCBI36
NG_009027.1:g.10582G>C , LRG_837:g.10582G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261024.7:c.202G>C MANE Select	ENSP00000261024.3:p.Val68Leu
ENST00000261024.6:c.202G>C	ENSP00000261024.2:p.Val68Leu
ENST00000418714.1:n.643G>C
ENST00000427241.5:c.202G>C	ENSP00000390005.1:p.Val68Leu
ENST00000479598.5:n.483G>C
NM_014585.5:c.202G>C , LRG_837t1:c.202G>C	NP_055400.1:p.Val68Leu
XM_005246505.1:c.82G>C	XP_005246562.1:p.Val28Leu
XM_005246505.2:c.82G>C	XP_005246562.1:p.Val28Leu
XM_017003938.2:c.82G>C	XP_016859427.1:p.Val28Leu
NM_014585.6:c.202G>C MANE Select	NP_055400.1:p.Val68Leu