Canonical Allele Identifier: CA349987692

Gene: SLC40A1

Linked Data

• gnomAD v4: 2-189563861-G-C
• MyVariant Identifiers: chr2:g.190428587G>C (hg19) ; chr2:g.189563861G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189563861G>C , CM000664.2:g.189563861G>C	GRCh38
NC_000002.11:g.190428587G>C , CM000664.1:g.190428587G>C	GRCh37
NC_000002.10:g.190136832G>C	NCBI36
NG_009027.1:g.21951C>G , LRG_837:g.21951C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261024.7:c.1125C>G MANE Select	ENSP00000261024.3:p.Ile375Met
ENST00000261024.6:c.1125C>G	ENSP00000261024.2:p.Ile375Met
NM_014585.5:c.1125C>G , LRG_837t1:c.1125C>G	NP_055400.1:p.Ile375Met
XM_005246505.1:c.1005C>G	XP_005246562.1:p.Ile335Met
XM_005246505.2:c.1005C>G	XP_005246562.1:p.Ile335Met
XM_017003938.2:c.1005C>G	XP_016859427.1:p.Ile335Met
NM_014585.6:c.1125C>G MANE Select	NP_055400.1:p.Ile375Met