Canonical Allele Identifier: CA430502494

Gene: SLC40A1

Linked Data

• ClinVar Variation Id: 2881197
• ClinVar RCV Id: RCV003615082
• gnomAD v4: 2-189564056-A-G
• MyVariant Identifiers: chr2:g.190428782A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189564056A>G , CM000664.2:g.189564056A>G	GRCh38
NC_000002.11:g.190428782A>G , CM000664.1:g.190428782A>G	GRCh37
NC_000002.10:g.190137027A>G	NCBI36
NG_009027.1:g.21756T>C , LRG_837:g.21756T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261024.7:c.930T>C MANE Select	ENSP00000261024.3:p.Ala310=
ENST00000261024.6:c.930T>C	ENSP00000261024.2:p.Ala310=
NM_014585.5:c.930T>C , LRG_837t1:c.930T>C	NP_055400.1:p.Ala310=
XM_005246505.1:c.810T>C	XP_005246562.1:p.Ala270=
XM_005246505.2:c.810T>C	XP_005246562.1:p.Ala270=
XM_017003938.2:c.810T>C	XP_016859427.1:p.Ala270=
NM_014585.6:c.930T>C MANE Select	NP_055400.1:p.Ala310=