Canonical Allele Identifier: CA8458258

Gene: SLC46A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.28404791T>C , CM000679.2:g.28404791T>C	GRCh38
NC_000017.10:g.26731809T>C , CM000679.1:g.26731809T>C	GRCh37
NC_000017.9:g.23755936T>C	NCBI36
NG_013306.1:g.6420A>G , LRG_183:g.6420A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_080669.6:c.906A>G MANE Select	NP_542400.2:p.Lys302=
ENST00000612814.5:c.906A>G MANE Select	ENSP00000480703.1:p.Lys302=
NM_001242366.2:c.906A>G	NP_001229295.1:p.Lys302=
NM_001242366.3:c.906A>G	NP_001229295.1:p.Lys302=
NM_080669.5:c.906A>G	NP_542400.2:p.Lys302=
ENST00000578217.1:n.68-23A>G
ENST00000582590.1:n.960A>G
ENST00000582735.1:c.31A>G
ENST00000584995.5:c.684A>G	ENSP00000464190.1:p.Lys228=
ENST00000612814.4:c.906A>G	ENSP00000480703.1:p.Lys302=
ENST00000618626.1:c.906A>G	ENSP00000483652.1:p.Lys302=
XM_005277786.2:c.906A>G	XP_005277843.1:p.Lys302=
XM_005277786.3:c.906A>G	XP_005277843.1:p.Lys302=
XM_017024110.1:c.684A>G	XP_016879599.1:p.Lys228=