Canonical Allele Identifier: CA349987997

Gene: SLC40A1

Linked Data

• dbSNP Id: rs1227198230
• MyVariant Identifiers: chr2:g.190428735C>G (hg19) ; chr2:g.189564009C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189564009C>G , CM000664.2:g.189564009C>G	GRCh38
NC_000002.11:g.190428735C>G , CM000664.1:g.190428735C>G	GRCh37
NC_000002.10:g.190136980C>G	NCBI36
NG_009027.1:g.21803G>C , LRG_837:g.21803G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261024.7:c.977G>C MANE Select	ENSP00000261024.3:p.Cys326Ser
ENST00000261024.6:c.977G>C	ENSP00000261024.2:p.Cys326Ser
NM_014585.5:c.977G>C , LRG_837t1:c.977G>C	NP_055400.1:p.Cys326Ser
XM_005246505.1:c.857G>C	XP_005246562.1:p.Cys286Ser
XM_005246505.2:c.857G>C	XP_005246562.1:p.Cys286Ser
XM_017003938.2:c.857G>C	XP_016859427.1:p.Cys286Ser
NM_014585.6:c.977G>C MANE Select	NP_055400.1:p.Cys326Ser