Canonical Allele Identifier: CA349989016

Gene: SLC40A1

Linked Data

• MyVariant Identifiers: chr2:g.190430321C>G (hg19) ; chr2:g.189565595C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189565595C>G , CM000664.2:g.189565595C>G	GRCh38
NC_000002.11:g.190430321C>G , CM000664.1:g.190430321C>G	GRCh37
NC_000002.10:g.190138566C>G	NCBI36
NG_009027.1:g.20217G>C , LRG_837:g.20217G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261024.7:c.519G>C MANE Select	ENSP00000261024.3:p.Met173Ile
ENST00000261024.6:c.519G>C	ENSP00000261024.2:p.Met173Ile
ENST00000427241.5:c.519G>C	ENSP00000390005.1:p.Met173Ile
NM_014585.5:c.519G>C , LRG_837t1:c.519G>C	NP_055400.1:p.Met173Ile
XM_005246505.1:c.399G>C	XP_005246562.1:p.Met133Ile
XM_005246505.2:c.399G>C	XP_005246562.1:p.Met133Ile
XM_017003938.2:c.399G>C	XP_016859427.1:p.Met133Ile
NM_014585.6:c.519G>C MANE Select	NP_055400.1:p.Met173Ile