Canonical Allele Identifier: CA8458267

Gene: SLC46A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.28404848C>T , CM000679.2:g.28404848C>T	GRCh38
NC_000017.10:g.26731866C>T , CM000679.1:g.26731866C>T	GRCh37
NC_000017.9:g.23755993C>T	NCBI36
NG_013306.1:g.6363G>A , LRG_183:g.6363G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_080669.6:c.849G>A MANE Select	NP_542400.2:p.Gly283=
ENST00000612814.5:c.849G>A MANE Select	ENSP00000480703.1:p.Gly283=
NM_001242366.2:c.849G>A	NP_001229295.1:p.Gly283=
NM_001242366.3:c.849G>A	NP_001229295.1:p.Gly283=
NM_080669.5:c.849G>A	NP_542400.2:p.Gly283=
ENST00000578217.1:n.68-80G>A
ENST00000582590.1:n.903G>A
ENST00000584995.5:c.627G>A	ENSP00000464190.1:p.Gly209=
ENST00000612814.4:c.849G>A	ENSP00000480703.1:p.Gly283=
ENST00000618626.1:c.849G>A	ENSP00000483652.1:p.Gly283=
XM_005277786.2:c.849G>A	XP_005277843.1:p.Gly283=
XM_005277786.3:c.849G>A	XP_005277843.1:p.Gly283=
XM_017024110.1:c.627G>A	XP_016879599.1:p.Gly209=