Canonical Allele Identifier: CA342664

Gene: SLC22A5

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132387102C>A , CM000667.2:g.132387102C>A	GRCh38
NC_000005.9:g.131722794C>A , CM000667.1:g.131722794C>A	GRCh37
NC_000005.8:g.131750693C>A	NCBI36
NG_008982.1:g.22394C>A
NG_008982.2:g.22399C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.743C>A	ENSP00000388838.2:p.Ala248Asp
ENST00000435065.7:c.974C>A	ENSP00000402760.2:p.Ala325Asp
ENST00000448810.6:c.902C>A	ENSP00000401860.2:p.Ala301Asp
ENST00000686757.1:c.*66C>A	ENSP00000510721.1:n.*66C>A
ENST00000687740.1:n.3587C>A
ENST00000688151.1:n.2212C>A
ENST00000689271.1:c.749C>A	ENSP00000510797.1:p.Ala250Asp
ENST00000690900.1:c.*66C>A	ENSP00000510703.1:n.*66C>A
ENST00000692212.1:n.846C>A
ENST00000692355.1:c.205-1819C>A
ENST00000692413.1:c.884C>A	ENSP00000509374.1:p.Ala295Asp
ENST00000692825.1:c.970C>A	ENSP00000509447.1:n.970C>A
ENST00000693308.1:c.950C>A	ENSP00000509770.1:p.Ala317Asp
ENST00000693763.1:n.2062C>A
ENST00000245407.8:c.902C>A MANE Select	ENSP00000245407.3:p.Ala301Asp
ENST00000245407.7:c.902C>A	ENSP00000245407.3:p.Ala301Asp
ENST00000415928.5:c.671C>A	ENSP00000388838.1:p.Ala224Asp
ENST00000435065.6:c.974C>A	ENSP00000402760.2:p.Ala325Asp
ENST00000437841.6:c.*217C>A	ENSP00000400553.1:n.*217C>A
ENST00000448810.5:c.250C>A
ENST00000461013.5:n.8324C>A
NM_001308122.1:c.974C>A	NP_001295051.1:p.Ala325Asp
NM_003060.3:c.902C>A	NP_003051.1:p.Ala301Asp
XM_011543590.1:c.284C>A	XP_011541892.1:p.Ala95Asp
XR_427718.1:n.1262C>A
XR_948290.1:n.1243C>A
XR_948291.1:n.1256C>A
XM_011543590.2:c.284C>A	XP_011541892.1:p.Ala95Asp
XM_017009778.2:c.374C>A	XP_016865267.1:p.Ala125Asp
XR_001742215.1:n.1243C>A
XR_001742216.1:n.1262C>A
XR_427718.2:n.1262C>A
XR_948290.2:n.1243C>A
XR_948291.2:n.1256C>A
NM_003060.4:c.902C>A MANE Select	NP_003051.1:p.Ala301Asp
NM_001308122.2:c.974C>A	NP_001295051.1:p.Ala325Asp