Canonical Allele Identifier: CA342687

Gene: SLC22A5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132392606G>T , CM000667.2:g.132392606G>T	GRCh38
NC_000005.9:g.131728298G>T , CM000667.1:g.131728298G>T	GRCh37
NC_000005.8:g.131756197G>T	NCBI36
NG_008982.1:g.27898G>T
NG_008982.2:g.27903G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003060.4:c.1441G>T MANE Select	NP_003051.1:p.Val481Phe
ENST00000245407.8:c.1441G>T MANE Select	ENSP00000245407.3:p.Val481Phe
NM_001308122.1:c.1513G>T	NP_001295051.1:p.Val505Phe
NM_001308122.2:c.1513G>T	NP_001295051.1:p.Val505Phe
NM_003060.3:c.1441G>T	NP_003051.1:p.Val481Phe
ENST00000245407.7:c.1441G>T	ENSP00000245407.3:p.Val481Phe
ENST00000415928.6:c.1282G>T	ENSP00000388838.2:p.Val428Phe
ENST00000435065.6:c.1513G>T	ENSP00000402760.2:p.Val505Phe
ENST00000435065.7:c.1513G>T	ENSP00000402760.2:p.Val505Phe
ENST00000447841.5:c.285G>T
ENST00000448810.5:c.703G>T
ENST00000448810.6:c.*293G>T	ENSP00000401860.2:n.*293G>T
ENST00000461013.5:n.8863G>T
ENST00000475308.1:n.2119G>T
ENST00000479605.5:n.544G>T
ENST00000685543.1:n.1582G>T
ENST00000686757.1:c.*605G>T	ENSP00000510721.1:n.*605G>T
ENST00000687740.1:n.4126G>T
ENST00000688151.1:n.2751G>T
ENST00000689271.1:c.1288G>T	ENSP00000510797.1:p.Val430Phe
ENST00000690900.1:c.*605G>T	ENSP00000510703.1:n.*605G>T
ENST00000692212.1:n.4581G>T
ENST00000692355.1:c.694G>T
ENST00000692413.1:c.1423G>T	ENSP00000509374.1:p.Val475Phe
ENST00000692825.1:c.1509G>T	ENSP00000509447.1:n.1509G>T
ENST00000693308.1:c.1489G>T	ENSP00000509770.1:p.Val497Phe
ENST00000693763.1:n.2601G>T
XM_011543590.1:c.823G>T	XP_011541892.1:p.Val275Phe
XM_011543590.2:c.823G>T	XP_011541892.1:p.Val275Phe
XM_017009778.2:c.913G>T	XP_016865267.1:p.Val305Phe
XR_001742215.1:n.1696G>T
XR_001742216.1:n.1715G>T
XR_427718.2:n.1801G>T
XR_948290.1:n.1567G>T
XR_948290.2:n.1567G>T
XR_948291.2:n.1795G>T