Canonical Allele Identifier: CA8458308

Gene: SLC46A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.28405074T>A , CM000679.2:g.28405074T>A	GRCh38
NC_000017.10:g.26732092T>A , CM000679.1:g.26732092T>A	GRCh37
NC_000017.9:g.23756219T>A	NCBI36
NG_013306.1:g.6137A>T , LRG_183:g.6137A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_080669.6:c.623A>T MANE Select	NP_542400.2:p.Tyr208Phe
ENST00000612814.5:c.623A>T MANE Select	ENSP00000480703.1:p.Tyr208Phe
NM_001242366.2:c.623A>T	NP_001229295.1:p.Tyr208Phe
NM_001242366.3:c.623A>T	NP_001229295.1:p.Tyr208Phe
NM_080669.5:c.623A>T	NP_542400.2:p.Tyr208Phe
ENST00000578217.1:n.68-306A>T
ENST00000582590.1:n.677A>T
ENST00000584426.1:c.359A>T	ENSP00000467416.1:p.Tyr120Phe
ENST00000584995.5:c.401A>T	ENSP00000464190.1:p.Tyr134Phe
ENST00000612814.4:c.623A>T	ENSP00000480703.1:p.Tyr208Phe
ENST00000618626.1:c.623A>T	ENSP00000483652.1:p.Tyr208Phe
XM_005277786.2:c.623A>T	XP_005277843.1:p.Tyr208Phe
XM_005277786.3:c.623A>T	XP_005277843.1:p.Tyr208Phe
XM_017024110.1:c.401A>T	XP_016879599.1:p.Tyr134Phe