Canonical Allele Identifier: CA2024295

Gene: SLC40A1

Linked Data

• dbSNP Id: rs781023503
• ExAC: 2:190440061 G / T
• gnomAD v2: 2-190440061-G-T
• gnomAD v4: 2-189575335-G-T
• MyVariant Identifiers: chr2:g.190440061G>T (hg19) ; chr2:g.189575335G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189575335G>T , CM000664.2:g.189575335G>T	GRCh38
NC_000002.11:g.190440061G>T , CM000664.1:g.190440061G>T	GRCh37
NC_000002.10:g.190148306G>T	NCBI36
NG_009027.1:g.10477C>A , LRG_837:g.10477C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261024.7:c.112-15C>A MANE Select	ENSP00000261024.3:n.112-15C>A
ENST00000261024.6:c.112-15C>A	ENSP00000261024.2:n.112-15C>A
ENST00000418714.1:n.553-15C>A
ENST00000427241.5:c.112-15C>A	ENSP00000390005.1:n.112-15C>A
ENST00000455320.5:c.112-15C>A	ENSP00000413549.1:n.112-15C>A
ENST00000479598.5:n.393-15C>A
NM_014585.5:c.112-15C>A , LRG_837t1:c.112-15C>A	NP_055400.1:n.112-15C>A
XM_005246505.1:c.-9-15C>A	XP_005246562.1:n.-9-15C>A
XM_005246505.2:c.-9-15C>A	XP_005246562.1:n.-9-15C>A
XM_017003938.2:c.-9-15C>A	XP_016859427.1:n.-9-15C>A
NM_014585.6:c.112-15C>A MANE Select	NP_055400.1:n.112-15C>A