Canonical Allele Identifier: CA62902910
Gene: SLC40A1 HGNC NCBI

Linked Data

dbSNP Id: rs893555184
gnomAD v2: 2-190428914-C-T
gnomAD v3: 2-189564188-C-T
gnomAD v4: 2-189564188-C-T
MyVariant Identifiers: chr2:g.190428914C>T (hg19) chr2:g.189564188C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189564188C>T , CM000664.2:g.189564188C>T GRCh38
NC_000002.11:g.190428914C>T , CM000664.1:g.190428914C>T GRCh37
NC_000002.10:g.190137159C>T NCBI36
NG_009027.1:g.21624G>A , LRG_837:g.21624G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.798G>A MANE Select ENSP00000261024.3:p.Met266Ile
ENST00000261024.6:c.798G>A ENSP00000261024.2:p.Met266Ile
NM_014585.5:c.798G>A , LRG_837t1:c.798G>A NP_055400.1:p.Met266Ile
XM_005246505.1:c.678G>A XP_005246562.1:p.Met226Ile
XM_005246505.2:c.678G>A XP_005246562.1:p.Met226Ile
XM_017003938.2:c.678G>A XP_016859427.1:p.Met226Ile
NM_014585.6:c.798G>A MANE Select NP_055400.1:p.Met266Ile
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