Canonical Allele Identifier: CA2024143
Gene: SLC40A1 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.189564177T>G
GRCh37 chr2:g.190428903T>G
Revel Score:
ENST00000261024 (MANE Select) 0.304
ENST00000544056 0.304
gnomAD v2:
2:190428903 T / G
gnomAD v3:
2:189564177 T / G
gnomAD v4:
chr2-189564177-T-G
Joint Max Group AF 0.00002259 (AMR)
Exomes Max Group AF 0.00001784 (AMR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189564177T>G , CM000664.2:g.189564177T>G GRCh38
NC_000002.11:g.190428903T>G , CM000664.1:g.190428903T>G GRCh37
NC_000002.10:g.190137148T>G NCBI36
NG_009027.1:g.21635A>C , LRG_837:g.21635A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.809A>C MANE Select ENSP00000261024.3:p.Asp270Ala
ENST00000261024.6:c.809A>C ENSP00000261024.2:p.Asp270Ala
NM_014585.5:c.809A>C , LRG_837t1:c.809A>C NP_055400.1:p.Asp270Ala
XM_005246505.1:c.689A>C XP_005246562.1:p.Asp230Ala
XM_005246505.2:c.689A>C XP_005246562.1:p.Asp230Ala
XM_017003938.2:c.689A>C XP_016859427.1:p.Asp230Ala
NM_014585.6:c.809A>C MANE Select NP_055400.1:p.Asp270Ala
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