Canonical Allele Identifier: CA026494

Gene: SLC46A1

Linked Data

• ClinVar Variation Id: 30925
• ClinVar RCV Id: RCV000023913 ; RCV000059709
• dbSNP Id: rs281875209
• gnomAD v4: 17-28404685-C-G
• MyVariant Identifiers: chr17:g.26731703C>G (hg19) ; chr17:g.28404685C>G (hg38)
• PubMed: PMID:20301716 ; PMID:21333572

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.28404685C>G , CM000679.2:g.28404685C>G	GRCh38
NC_000017.10:g.26731703C>G , CM000679.1:g.26731703C>G	GRCh37
NC_000017.9:g.23755830C>G	NCBI36
NG_013306.1:g.6526G>C , LRG_183:g.6526G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000612814.5:c.1012G>C MANE Select	ENSP00000480703.1:p.Gly338Arg
ENST00000578217.1:n.151G>C
ENST00000582590.1:n.1066G>C
ENST00000582735.1:c.137G>C
ENST00000612814.4:c.1012G>C	ENSP00000480703.1:p.Gly338Arg
ENST00000618626.1:c.1012G>C	ENSP00000483652.1:p.Gly338Arg
NM_001242366.2:c.1012G>C	NP_001229295.1:p.Gly338Arg
NM_080669.5:c.1012G>C	NP_542400.2:p.Gly338Arg
XM_005277786.2:c.1012G>C	XP_005277843.1:p.Gly338Arg
XM_005277786.3:c.1012G>C	XP_005277843.1:p.Gly338Arg
XM_017024110.1:c.790G>C	XP_016879599.1:p.Gly264Arg
NM_080669.6:c.1012G>C MANE Select	NP_542400.2:p.Gly338Arg
NM_001242366.3:c.1012G>C	NP_001229295.1:p.Gly338Arg