Canonical Allele Identifier: CA026505

Gene: SLC46A1

Linked Data

• ClinVar Variation Id: 852
• ClinVar RCV Id: RCV000000900 ; RCV000059713
• dbSNP Id: rs80338770
• gnomAD v4: 17-28405360-G-T
• MyVariant Identifiers: chr17:g.26732378G>T (hg19) ; chr17:g.28405360G>T (hg38)
• PubMed: PMID:3987728 ; PMID:17446347 ; PMID:20301716

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.28405360G>T , CM000679.2:g.28405360G>T	GRCh38
NC_000017.10:g.26732378G>T , CM000679.1:g.26732378G>T	GRCh37
NC_000017.9:g.23756505G>T	NCBI36
NG_013306.1:g.5851C>A , LRG_183:g.5851C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000612814.5:c.337C>A MANE Select	ENSP00000480703.1:p.Arg113Ser
ENST00000578217.1:n.67+321C>A
ENST00000582590.1:n.391C>A
ENST00000584426.1:c.73C>A	ENSP00000467416.1:p.Arg25Ser
ENST00000584995.5:c.115C>A	ENSP00000464190.1:p.Arg39Ser
ENST00000612814.4:c.337C>A	ENSP00000480703.1:p.Arg113Ser
ENST00000618626.1:c.337C>A	ENSP00000483652.1:p.Arg113Ser
NM_001242366.2:c.337C>A	NP_001229295.1:p.Arg113Ser
NM_080669.5:c.337C>A	NP_542400.2:p.Arg113Ser
XM_005277786.2:c.337C>A	XP_005277843.1:p.Arg113Ser
XM_005277786.3:c.337C>A	XP_005277843.1:p.Arg113Ser
XM_017024110.1:c.115C>A	XP_016879599.1:p.Arg39Ser
NM_080669.6:c.337C>A MANE Select	NP_542400.2:p.Arg113Ser
NM_001242366.3:c.337C>A	NP_001229295.1:p.Arg113Ser