Canonical Allele Identifier: CA026493
Gene: SLC46A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 30923
ClinVar RCV Id: RCV000023911 RCV000059708
dbSNP Id: rs281875208
ExAC: 17:26731711 G / T
gnomAD v2: 17-26731711-G-T
gnomAD v3: 17-28404693-G-T
gnomAD v4: 17-28404693-G-T
MyVariant Identifiers: chr17:g.26731711G>T (hg19) chr17:g.28404693G>T (hg38)
PubMed: PMID:20301716 PMID:21333572
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.28404693G>T , CM000679.2:g.28404693G>T GRCh38
NC_000017.10:g.26731711G>T , CM000679.1:g.26731711G>T GRCh37
NC_000017.9:g.23755838G>T NCBI36
NG_013306.1:g.6518C>A , LRG_183:g.6518C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000612814.5:c.1004C>A MANE Select ENSP00000480703.1:p.Ala335Asp
ENST00000578217.1:n.143C>A
ENST00000582590.1:n.1058C>A
ENST00000582735.1:c.129C>A
ENST00000612814.4:c.1004C>A ENSP00000480703.1:p.Ala335Asp
ENST00000618626.1:c.1004C>A ENSP00000483652.1:p.Ala335Asp
NM_001242366.2:c.1004C>A NP_001229295.1:p.Ala335Asp
NM_080669.5:c.1004C>A NP_542400.2:p.Ala335Asp
XM_005277786.2:c.1004C>A XP_005277843.1:p.Ala335Asp
XM_005277786.3:c.1004C>A XP_005277843.1:p.Ala335Asp
XM_017024110.1:c.782C>A XP_016879599.1:p.Ala261Asp
NM_080669.6:c.1004C>A MANE Select NP_542400.2:p.Ala335Asp
NM_001242366.3:c.1004C>A NP_001229295.1:p.Ala335Asp
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