Canonical Allele Identifier: CA3404127

Gene: SLC22A5

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132392461G>C , CM000667.2:g.132392461G>C	GRCh38
NC_000005.9:g.131728153G>C , CM000667.1:g.131728153G>C	GRCh37
NC_000005.8:g.131756052G>C	NCBI36
NG_008982.1:g.27753G>C
NG_008982.2:g.27758G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1137G>C	ENSP00000388838.2:p.Val379=
ENST00000435065.7:c.1368G>C	ENSP00000402760.2:p.Val456=
ENST00000448810.6:c.*148G>C	ENSP00000401860.2:n.*148G>C
ENST00000685543.1:n.1437G>C
ENST00000686757.1:c.*460G>C	ENSP00000510721.1:n.*460G>C
ENST00000687740.1:n.3981G>C
ENST00000688151.1:n.2606G>C
ENST00000689271.1:c.1143G>C	ENSP00000510797.1:p.Val381=
ENST00000690900.1:c.*460G>C	ENSP00000510703.1:n.*460G>C
ENST00000692212.1:n.4436G>C
ENST00000692355.1:c.549G>C
ENST00000692413.1:c.1278G>C	ENSP00000509374.1:p.Val426=
ENST00000692825.1:c.1364G>C	ENSP00000509447.1:n.1364G>C
ENST00000693308.1:c.1344G>C	ENSP00000509770.1:p.Val448=
ENST00000693763.1:n.2456G>C
ENST00000245407.8:c.1296G>C MANE Select	ENSP00000245407.3:p.Val432=
ENST00000245407.7:c.1296G>C	ENSP00000245407.3:p.Val432=
ENST00000435065.6:c.1368G>C	ENSP00000402760.2:p.Val456=
ENST00000447841.5:c.140G>C
ENST00000448810.5:c.558G>C
ENST00000461013.5:n.8718G>C
ENST00000475308.1:n.1974G>C
ENST00000479605.5:n.399G>C
NM_001308122.1:c.1368G>C	NP_001295051.1:p.Val456=
NM_003060.3:c.1296G>C	NP_003051.1:p.Val432=
XM_011543590.1:c.678G>C	XP_011541892.1:p.Val226=
XR_427718.1:n.1656G>C
XR_948290.1:n.1422G>C
XR_948291.1:n.1650G>C
XM_011543590.2:c.678G>C	XP_011541892.1:p.Val226=
XM_017009778.2:c.768G>C	XP_016865267.1:p.Val256=
XR_001742215.1:n.1551G>C
XR_001742216.1:n.1570G>C
XR_427718.2:n.1656G>C
XR_948290.2:n.1422G>C
XR_948291.2:n.1650G>C
NM_003060.4:c.1296G>C MANE Select	NP_003051.1:p.Val432=
NM_001308122.2:c.1368G>C	NP_001295051.1:p.Val456=