Canonical Allele Identifier: CA62903057

Gene: SLC40A1

Linked Data

• dbSNP Id: rs757531583
• gnomAD v3: 2-189565468-T-G
• gnomAD v4: 2-189565468-T-G
• MyVariant Identifiers: chr2:g.190430194T>G (hg19) ; chr2:g.189565468T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189565468T>G , CM000664.2:g.189565468T>G	GRCh38
NC_000002.11:g.190430194T>G , CM000664.1:g.190430194T>G	GRCh37
NC_000002.10:g.190138439T>G	NCBI36
NG_009027.1:g.20344A>C , LRG_837:g.20344A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261024.7:c.646A>C MANE Select	ENSP00000261024.3:p.Met216Leu
ENST00000261024.6:c.646A>C	ENSP00000261024.2:p.Met216Leu
NM_014585.5:c.646A>C , LRG_837t1:c.646A>C	NP_055400.1:p.Met216Leu
XM_005246505.1:c.526A>C	XP_005246562.1:p.Met176Leu
XM_005246505.2:c.526A>C	XP_005246562.1:p.Met176Leu
XM_017003938.2:c.526A>C	XP_016859427.1:p.Met176Leu
NM_014585.6:c.646A>C MANE Select	NP_055400.1:p.Met216Leu