Canonical Allele Identifier: CA8458319

Gene: SLC46A1

Linked Data

• ClinVar Variation Id: 322409
• ClinVar RCV Id: RCV000385629 ; RCV001317868 ; RCV003993930
• dbSNP Id: rs189103810
• ExAC: 17:26732203 A / T
• gnomAD v2: 17-26732203-A-T
• gnomAD v3: 17-28405185-A-T
• gnomAD v4: 17-28405185-A-T
• MyVariant Identifiers: chr17:g.26732203A>T (hg19) ; chr17:g.28405185A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.28405185A>T , CM000679.2:g.28405185A>T	GRCh38
NC_000017.10:g.26732203A>T , CM000679.1:g.26732203A>T	GRCh37
NC_000017.9:g.23756330A>T	NCBI36
NG_013306.1:g.6026T>A , LRG_183:g.6026T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000612814.5:c.512T>A MANE Select	ENSP00000480703.1:p.Val171Asp
ENST00000578217.1:n.68-417T>A
ENST00000582590.1:n.566T>A
ENST00000584426.1:c.248T>A	ENSP00000467416.1:p.Val83Asp
ENST00000584995.5:c.290T>A	ENSP00000464190.1:p.Val97Asp
ENST00000612814.4:c.512T>A	ENSP00000480703.1:p.Val171Asp
ENST00000618626.1:c.512T>A	ENSP00000483652.1:p.Val171Asp
NM_001242366.2:c.512T>A	NP_001229295.1:p.Val171Asp
NM_080669.5:c.512T>A	NP_542400.2:p.Val171Asp
XM_005277786.2:c.512T>A	XP_005277843.1:p.Val171Asp
XM_005277786.3:c.512T>A	XP_005277843.1:p.Val171Asp
XM_017024110.1:c.290T>A	XP_016879599.1:p.Val97Asp
NM_080669.6:c.512T>A MANE Select	NP_542400.2:p.Val171Asp
NM_001242366.3:c.512T>A	NP_001229295.1:p.Val171Asp