Canonical Allele Identifier: CA026508

Gene: SLC46A1

Linked Data

• ClinVar Variation Id: 65753
• ClinVar RCV Id: RCV000059716
• dbSNP Id: rs281875210
• gnomAD v4: 17-28405231-C-A
• MyVariant Identifiers: chr17:g.26732249C>A (hg19) ; chr17:g.28405231C>A (hg38)
• PubMed: PMID:20301716

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.28405231C>A , CM000679.2:g.28405231C>A	GRCh38
NC_000017.10:g.26732249C>A , CM000679.1:g.26732249C>A	GRCh37
NC_000017.9:g.23756376C>A	NCBI36
NG_013306.1:g.5980G>T , LRG_183:g.5980G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000612814.5:c.466G>T MANE Select	ENSP00000480703.1:p.Asp156Tyr
ENST00000578217.1:n.67+450G>T
ENST00000582590.1:n.520G>T
ENST00000584426.1:c.202G>T	ENSP00000467416.1:p.Asp68Tyr
ENST00000584995.5:c.244G>T	ENSP00000464190.1:p.Asp82Tyr
ENST00000612814.4:c.466G>T	ENSP00000480703.1:p.Asp156Tyr
ENST00000618626.1:c.466G>T	ENSP00000483652.1:p.Asp156Tyr
NM_001242366.2:c.466G>T	NP_001229295.1:p.Asp156Tyr
NM_080669.5:c.466G>T	NP_542400.2:p.Asp156Tyr
XM_005277786.2:c.466G>T	XP_005277843.1:p.Asp156Tyr
XM_005277786.3:c.466G>T	XP_005277843.1:p.Asp156Tyr
XM_017024110.1:c.244G>T	XP_016879599.1:p.Asp82Tyr
NM_080669.6:c.466G>T MANE Select	NP_542400.2:p.Asp156Tyr
NM_001242366.3:c.466G>T	NP_001229295.1:p.Asp156Tyr