Canonical Allele Identifier: CA398354942

Gene: SLC46A1

Linked Data

• ClinVar Variation Id: 1462338
• ClinVar RCV Id: RCV001985667
• dbSNP Id: rs1328516882
• MyVariant Identifiers: chr17:g.26733096C>G (hg19) ; chr17:g.28406078C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.28406078C>G , CM000679.2:g.28406078C>G	GRCh38
NC_000017.10:g.26733096C>G , CM000679.1:g.26733096C>G	GRCh37
NC_000017.9:g.23757223C>G	NCBI36
NG_013306.1:g.5133G>C , LRG_183:g.5133G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000612814.5:c.37G>C MANE Select	ENSP00000480703.1:p.Ala13Pro
ENST00000581516.1:c.-105-81G>C	ENSP00000462942.1:n.-105-81G>C
ENST00000582590.1:n.91G>C
ENST00000584426.1:c.-37+379G>C	ENSP00000467416.1:n.-37+379G>C
ENST00000584995.5:c.-105-81G>C	ENSP00000464190.1:n.-105-81G>C
ENST00000612814.4:c.37G>C	ENSP00000480703.1:p.Ala13Pro
ENST00000618626.1:c.37G>C	ENSP00000483652.1:p.Ala13Pro
NM_001242366.2:c.37G>C	NP_001229295.1:p.Ala13Pro
NM_080669.5:c.37G>C	NP_542400.2:p.Ala13Pro
XM_005277786.2:c.37G>C	XP_005277843.1:p.Ala13Pro
XR_934643.1:n.90-438C>G
XM_005277786.3:c.37G>C	XP_005277843.1:p.Ala13Pro
XM_017024110.1:c.-105-81G>C	XP_016879599.1:n.-105-81G>C
NM_080669.6:c.37G>C MANE Select	NP_542400.2:p.Ala13Pro
NM_001242366.3:c.37G>C	NP_001229295.1:p.Ala13Pro