Canonical Allele Identifier: CA349988988

Gene: SLC40A1

Linked Data

• ClinVar Variation Id: 2025288
• ClinVar RCV Id: RCV002853041
• dbSNP Id: rs1039029115
• MyVariant Identifiers: chr2:g.190430308G>C (hg19) ; chr2:g.189565582G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189565582G>C , CM000664.2:g.189565582G>C	GRCh38
NC_000002.11:g.190430308G>C , CM000664.1:g.190430308G>C	GRCh37
NC_000002.10:g.190138553G>C	NCBI36
NG_009027.1:g.20230C>G , LRG_837:g.20230C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261024.7:c.532C>G MANE Select	ENSP00000261024.3:p.Arg178Gly
ENST00000261024.6:c.532C>G	ENSP00000261024.2:p.Arg178Gly
ENST00000427241.5:c.532C>G	ENSP00000390005.1:p.Arg178Gly
NM_014585.5:c.532C>G , LRG_837t1:c.532C>G	NP_055400.1:p.Arg178Gly
XM_005246505.1:c.412C>G	XP_005246562.1:p.Arg138Gly
XM_005246505.2:c.412C>G	XP_005246562.1:p.Arg138Gly
XM_017003938.2:c.412C>G	XP_016859427.1:p.Arg138Gly
NM_014585.6:c.532C>G MANE Select	NP_055400.1:p.Arg178Gly