Canonical Allele Identifier: CA349987659

Gene: SLC40A1

Linked Data

• dbSNP Id: rs928767214
• gnomAD v2: 2-190428571-G-C
• gnomAD v4: 2-189563845-G-C
• MyVariant Identifiers: chr2:g.190428571G>C (hg19) ; chr2:g.189563845G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189563845G>C , CM000664.2:g.189563845G>C	GRCh38
NC_000002.11:g.190428571G>C , CM000664.1:g.190428571G>C	GRCh37
NC_000002.10:g.190136816G>C	NCBI36
NG_009027.1:g.21967C>G , LRG_837:g.21967C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261024.7:c.1141C>G MANE Select	ENSP00000261024.3:p.Leu381Val
ENST00000261024.6:c.1141C>G	ENSP00000261024.2:p.Leu381Val
NM_014585.5:c.1141C>G , LRG_837t1:c.1141C>G	NP_055400.1:p.Leu381Val
XM_005246505.1:c.1021C>G	XP_005246562.1:p.Leu341Val
XM_005246505.2:c.1021C>G	XP_005246562.1:p.Leu341Val
XM_017003938.2:c.1021C>G	XP_016859427.1:p.Leu341Val
NM_014585.6:c.1141C>G MANE Select	NP_055400.1:p.Leu381Val