Canonical Allele Identifier: CA8458304

Gene: SLC46A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.28405055C>T , CM000679.2:g.28405055C>T	GRCh38
NC_000017.10:g.26732073C>T , CM000679.1:g.26732073C>T	GRCh37
NC_000017.9:g.23756200C>T	NCBI36
NG_013306.1:g.6156G>A , LRG_183:g.6156G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_080669.6:c.642G>A MANE Select	NP_542400.2:p.Leu214=
ENST00000612814.5:c.642G>A MANE Select	ENSP00000480703.1:p.Leu214=
NM_001242366.2:c.642G>A	NP_001229295.1:p.Leu214=
NM_001242366.3:c.642G>A	NP_001229295.1:p.Leu214=
NM_080669.5:c.642G>A	NP_542400.2:p.Leu214=
ENST00000578217.1:n.68-287G>A
ENST00000582590.1:n.696G>A
ENST00000584426.1:c.378G>A	ENSP00000467416.1:p.Leu126=
ENST00000584995.5:c.420G>A	ENSP00000464190.1:p.Leu140=
ENST00000612814.4:c.642G>A	ENSP00000480703.1:p.Leu214=
ENST00000618626.1:c.642G>A	ENSP00000483652.1:p.Leu214=
XM_005277786.2:c.642G>A	XP_005277843.1:p.Leu214=
XM_005277786.3:c.642G>A	XP_005277843.1:p.Leu214=
XM_017024110.1:c.420G>A	XP_016879599.1:p.Leu140=