Canonical Allele Identifier: CA026493

Gene: SLC46A1

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

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