Canonical Allele Identifier: CA360805527

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131722729G>T (hg19) ; chr5:g.132387037G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132387037G>T , CM000667.2:g.132387037G>T	GRCh38
NC_000005.9:g.131722729G>T , CM000667.1:g.131722729G>T	GRCh37
NC_000005.8:g.131750628G>T	NCBI36
NG_008982.1:g.22329G>T
NG_008982.2:g.22334G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.678G>T	ENSP00000388838.2:p.Glu226Asp
ENST00000435065.7:c.909G>T	ENSP00000402760.2:p.Glu303Asp
ENST00000448810.6:c.837G>T	ENSP00000401860.2:p.Glu279Asp
ENST00000686757.1:c.*1G>T	ENSP00000510721.1:n.*1G>T
ENST00000687740.1:n.3522G>T
ENST00000688151.1:n.2147G>T
ENST00000689271.1:c.684G>T	ENSP00000510797.1:p.Glu228Asp
ENST00000690900.1:c.*1G>T	ENSP00000510703.1:n.*1G>T
ENST00000692212.1:n.781G>T
ENST00000692355.1:c.205-1884G>T
ENST00000692413.1:c.844-25G>T	ENSP00000509374.1:n.844-25G>T
ENST00000692825.1:c.905G>T	ENSP00000509447.1:n.905G>T
ENST00000693308.1:c.885G>T	ENSP00000509770.1:p.Glu295Asp
ENST00000693763.1:n.1997G>T
ENST00000245407.8:c.837G>T MANE Select	ENSP00000245407.3:p.Glu279Asp
ENST00000245407.7:c.837G>T	ENSP00000245407.3:p.Glu279Asp
ENST00000415928.5:c.606G>T	ENSP00000388838.1:p.Glu202Asp
ENST00000435065.6:c.909G>T	ENSP00000402760.2:p.Glu303Asp
ENST00000437841.6:c.*152G>T	ENSP00000400553.1:n.*152G>T
ENST00000448810.5:c.185G>T
ENST00000461013.5:n.8259G>T
NM_001308122.1:c.909G>T	NP_001295051.1:p.Glu303Asp
NM_003060.3:c.837G>T	NP_003051.1:p.Glu279Asp
XM_011543590.1:c.219G>T	XP_011541892.1:p.Glu73Asp
XR_427718.1:n.1197G>T
XR_948290.1:n.1178G>T
XR_948291.1:n.1191G>T
XM_011543590.2:c.219G>T	XP_011541892.1:p.Glu73Asp
XM_017009778.2:c.309G>T	XP_016865267.1:p.Glu103Asp
XR_001742215.1:n.1178G>T
XR_001742216.1:n.1197G>T
XR_427718.2:n.1197G>T
XR_948290.2:n.1178G>T
XR_948291.2:n.1191G>T
NM_003060.4:c.837G>T MANE Select	NP_003051.1:p.Glu279Asp
NM_001308122.2:c.909G>T	NP_001295051.1:p.Glu303Asp