Canonical Allele Identifier: CA360809971

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131729474C>A (hg19) ; chr5:g.132393782C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132393782C>A , CM000667.2:g.132393782C>A	GRCh38
NC_000005.9:g.131729474C>A , CM000667.1:g.131729474C>A	GRCh37
NC_000005.8:g.131757373C>A	NCBI36
NG_008982.1:g.29074C>A
NG_008982.2:g.29079C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-403C>A	ENSP00000388838.2:n.1292-403C>A
ENST00000435065.7:c.1629C>A	ENSP00000402760.2:p.Asp543Glu
ENST00000448810.6:c.*409C>A	ENSP00000401860.2:n.*409C>A
ENST00000685543.1:n.1698C>A
ENST00000686757.1:c.*721C>A	ENSP00000510721.1:n.*721C>A
ENST00000686868.1:n.549C>A
ENST00000687740.1:n.4242C>A
ENST00000688151.1:n.2867C>A
ENST00000689271.1:c.1404C>A	ENSP00000510797.1:p.Asp468Glu
ENST00000690900.1:c.*721C>A	ENSP00000510703.1:n.*721C>A
ENST00000692212.1:n.4697C>A
ENST00000692355.1:c.810C>A
ENST00000692413.1:c.1539C>A	ENSP00000509374.1:p.Asp513Glu
ENST00000692825.1:c.1625C>A	ENSP00000509447.1:n.1625C>A
ENST00000693308.1:c.1605C>A	ENSP00000509770.1:p.Asp535Glu
ENST00000693763.1:n.2717C>A
ENST00000245407.8:c.1557C>A MANE Select	ENSP00000245407.3:p.Asp519Glu
ENST00000245407.7:c.1557C>A	ENSP00000245407.3:p.Asp519Glu
ENST00000435065.6:c.1629C>A	ENSP00000402760.2:p.Asp543Glu
ENST00000447841.5:c.401C>A
ENST00000448810.5:c.819C>A
ENST00000461013.5:n.8979C>A
ENST00000475308.1:n.2235C>A
NM_001308122.1:c.1629C>A	NP_001295051.1:p.Asp543Glu
NM_003060.3:c.1557C>A	NP_003051.1:p.Asp519Glu
XM_011543590.1:c.939C>A	XP_011541892.1:p.Asp313Glu
XR_948290.1:n.1683C>A
XM_011543590.2:c.939C>A	XP_011541892.1:p.Asp313Glu
XM_017009778.2:c.1029C>A	XP_016865267.1:p.Asp343Glu
XR_001742215.1:n.1812C>A
XR_001742216.1:n.1831C>A
XR_427718.2:n.1917C>A
XR_948290.2:n.1683C>A
XR_948291.2:n.1911C>A
NM_003060.4:c.1557C>A MANE Select	NP_003051.1:p.Asp519Glu
NM_001308122.2:c.1629C>A	NP_001295051.1:p.Asp543Glu