Canonical Allele Identifier: CA538593453

Gene: SLC40A1

Linked Data

• dbSNP Id: rs762847381
• gnomAD v2: 2-190436416-T-G
• gnomAD v3: 2-189571690-T-G
• gnomAD v4: 2-189571690-T-G
• MyVariant Identifiers: chr2:g.190436416T>G (hg19) ; chr2:g.189571690T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189571690T>G , CM000664.2:g.189571690T>G	GRCh38
NC_000002.11:g.190436416T>G , CM000664.1:g.190436416T>G	GRCh37
NC_000002.10:g.190144661T>G	NCBI36
NG_009027.1:g.14122A>C , LRG_837:g.14122A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261024.7:c.514+25A>C MANE Select	ENSP00000261024.3:n.514+25A>C
ENST00000261024.6:c.514+25A>C	ENSP00000261024.2:n.514+25A>C
ENST00000427241.5:c.514+25A>C	ENSP00000390005.1:n.514+25A>C
NM_014585.5:c.514+25A>C , LRG_837t1:c.514+25A>C	NP_055400.1:n.514+25A>C
XM_005246505.1:c.394+25A>C	XP_005246562.1:n.394+25A>C
XM_005246505.2:c.394+25A>C	XP_005246562.1:n.394+25A>C
XM_017003938.2:c.394+25A>C	XP_016859427.1:n.394+25A>C
NM_014585.6:c.514+25A>C MANE Select	NP_055400.1:n.514+25A>C