Canonical Allele Identifier: CA398352462

Gene: SLC46A1

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000612814.5:c.337C>G MANE Select	ENSP00000480703.1:p.Arg113Gly
ENST00000578217.1:n.67+321C>G
ENST00000582590.1:n.391C>G
ENST00000584426.1:c.73C>G	ENSP00000467416.1:p.Arg25Gly
ENST00000584995.5:c.115C>G	ENSP00000464190.1:p.Arg39Gly
ENST00000612814.4:c.337C>G	ENSP00000480703.1:p.Arg113Gly
ENST00000618626.1:c.337C>G	ENSP00000483652.1:p.Arg113Gly
NM_001242366.2:c.337C>G	NP_001229295.1:p.Arg113Gly
NM_080669.5:c.337C>G	NP_542400.2:p.Arg113Gly
XM_005277786.2:c.337C>G	XP_005277843.1:p.Arg113Gly
XM_005277786.3:c.337C>G	XP_005277843.1:p.Arg113Gly
XM_017024110.1:c.115C>G	XP_016879599.1:p.Arg39Gly
NM_080669.6:c.337C>G MANE Select	NP_542400.2:p.Arg113Gly
NM_001242366.3:c.337C>G	NP_001229295.1:p.Arg113Gly