Canonical Allele Identifier: CA8458382

Gene: SLC46A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.28405926C>G , CM000679.2:g.28405926C>G	GRCh38
NC_000017.10:g.26732944C>G , CM000679.1:g.26732944C>G	GRCh37
NC_000017.9:g.23757071C>G	NCBI36
NG_013306.1:g.5285G>C , LRG_183:g.5285G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_080669.6:c.189G>C MANE Select	NP_542400.2:p.Arg63Ser
ENST00000612814.5:c.189G>C MANE Select	ENSP00000480703.1:p.Arg63Ser
NM_001242366.2:c.189G>C	NP_001229295.1:p.Arg63Ser
NM_001242366.3:c.189G>C	NP_001229295.1:p.Arg63Ser
NM_080669.5:c.189G>C	NP_542400.2:p.Arg63Ser
ENST00000581516.1:c.-34G>C	ENSP00000462942.1:n.-34G>C
ENST00000582590.1:n.243G>C
ENST00000584426.1:c.-36-458G>C	ENSP00000467416.1:n.-36-458G>C
ENST00000584995.5:c.-34G>C	ENSP00000464190.1:n.-34G>C
ENST00000612814.4:c.189G>C	ENSP00000480703.1:p.Arg63Ser
ENST00000618626.1:c.189G>C	ENSP00000483652.1:p.Arg63Ser
XM_005277786.2:c.189G>C	XP_005277843.1:p.Arg63Ser
XM_005277786.3:c.189G>C	XP_005277843.1:p.Arg63Ser
XM_017024110.1:c.-34G>C	XP_016879599.1:n.-34G>C
XR_934643.1:n.89+475C>G