Canonical Allele Identifier: CA360809799

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131729424G>A (hg19) ; chr5:g.132393732G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132393732G>A , CM000667.2:g.132393732G>A	GRCh38
NC_000005.9:g.131729424G>A , CM000667.1:g.131729424G>A	GRCh37
NC_000005.8:g.131757323G>A	NCBI36
NG_008982.1:g.29024G>A
NG_008982.2:g.29029G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-453G>A	ENSP00000388838.2:n.1292-453G>A
ENST00000435065.7:c.1579G>A	ENSP00000402760.2:p.Ala527Thr
ENST00000448810.6:c.*359G>A	ENSP00000401860.2:n.*359G>A
ENST00000685543.1:n.1648G>A
ENST00000686757.1:c.*671G>A	ENSP00000510721.1:n.*671G>A
ENST00000686868.1:n.499G>A
ENST00000687740.1:n.4192G>A
ENST00000688151.1:n.2817G>A
ENST00000689271.1:c.1354G>A	ENSP00000510797.1:p.Ala452Thr
ENST00000690900.1:c.*671G>A	ENSP00000510703.1:n.*671G>A
ENST00000692212.1:n.4647G>A
ENST00000692355.1:c.760G>A
ENST00000692413.1:c.1489G>A	ENSP00000509374.1:p.Ala497Thr
ENST00000692825.1:c.1575G>A	ENSP00000509447.1:n.1575G>A
ENST00000693308.1:c.1555G>A	ENSP00000509770.1:p.Ala519Thr
ENST00000693763.1:n.2667G>A
ENST00000245407.8:c.1507G>A MANE Select	ENSP00000245407.3:p.Ala503Thr
ENST00000245407.7:c.1507G>A	ENSP00000245407.3:p.Ala503Thr
ENST00000435065.6:c.1579G>A	ENSP00000402760.2:p.Ala527Thr
ENST00000447841.5:c.351G>A
ENST00000448810.5:c.769G>A
ENST00000461013.5:n.8929G>A
ENST00000475308.1:n.2185G>A
NM_001308122.1:c.1579G>A	NP_001295051.1:p.Ala527Thr
NM_003060.3:c.1507G>A	NP_003051.1:p.Ala503Thr
XM_011543590.1:c.889G>A	XP_011541892.1:p.Ala297Thr
XR_948290.1:n.1633G>A
XM_011543590.2:c.889G>A	XP_011541892.1:p.Ala297Thr
XM_017009778.2:c.979G>A	XP_016865267.1:p.Ala327Thr
XR_001742215.1:n.1762G>A
XR_001742216.1:n.1781G>A
XR_427718.2:n.1867G>A
XR_948290.2:n.1633G>A
XR_948291.2:n.1861G>A
NM_003060.4:c.1507G>A MANE Select	NP_003051.1:p.Ala503Thr
NM_001308122.2:c.1579G>A	NP_001295051.1:p.Ala527Thr