Canonical Allele Identifier: CA349988783

Gene: SLC40A1

Linked Data

• gnomAD v4: 2-189565488-G-C
• MyVariant Identifiers: chr2:g.190430214G>C (hg19) ; chr2:g.189565488G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189565488G>C , CM000664.2:g.189565488G>C	GRCh38
NC_000002.11:g.190430214G>C , CM000664.1:g.190430214G>C	GRCh37
NC_000002.10:g.190138459G>C	NCBI36
NG_009027.1:g.20324C>G , LRG_837:g.20324C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261024.7:c.626C>G MANE Select	ENSP00000261024.3:p.Ser209Trp
ENST00000261024.6:c.626C>G	ENSP00000261024.2:p.Ser209Trp
NM_014585.5:c.626C>G , LRG_837t1:c.626C>G	NP_055400.1:p.Ser209Trp
XM_005246505.1:c.506C>G	XP_005246562.1:p.Ser169Trp
XM_005246505.2:c.506C>G	XP_005246562.1:p.Ser169Trp
XM_017003938.2:c.506C>G	XP_016859427.1:p.Ser169Trp
NM_014585.6:c.626C>G MANE Select	NP_055400.1:p.Ser209Trp