Canonical Allele Identifier: CA360807805

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131726566G>C (hg19) ; chr5:g.132390874G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390874G>C , CM000667.2:g.132390874G>C	GRCh38
NC_000005.9:g.131726566G>C , CM000667.1:g.131726566G>C	GRCh37
NC_000005.8:g.131754465G>C	NCBI36
NG_008982.1:g.26166G>C
NG_008982.2:g.26171G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1078G>C	ENSP00000388838.2:p.Val360Leu
ENST00000435065.7:c.1309G>C	ENSP00000402760.2:p.Val437Leu
ENST00000448810.6:c.*89G>C	ENSP00000401860.2:n.*89G>C
ENST00000685543.1:n.1378G>C
ENST00000686757.1:c.*401G>C	ENSP00000510721.1:n.*401G>C
ENST00000687740.1:n.3922G>C
ENST00000688151.1:n.2547G>C
ENST00000689271.1:c.1084G>C	ENSP00000510797.1:p.Val362Leu
ENST00000690900.1:c.*401G>C	ENSP00000510703.1:n.*401G>C
ENST00000692212.1:n.2849G>C
ENST00000692355.1:c.490G>C
ENST00000692413.1:c.1219G>C	ENSP00000509374.1:p.Val407Leu
ENST00000692825.1:c.1305G>C	ENSP00000509447.1:n.1305G>C
ENST00000693308.1:c.1285G>C	ENSP00000509770.1:p.Val429Leu
ENST00000693763.1:n.2397G>C
ENST00000245407.8:c.1237G>C MANE Select	ENSP00000245407.3:p.Val413Leu
ENST00000245407.7:c.1237G>C	ENSP00000245407.3:p.Val413Leu
ENST00000435065.6:c.1309G>C	ENSP00000402760.2:p.Val437Leu
ENST00000447841.5:c.112-1559G>C
ENST00000448810.5:c.499G>C
ENST00000461013.5:n.8659G>C
ENST00000475308.1:n.1915G>C
ENST00000479605.5:n.340G>C
NM_001308122.1:c.1309G>C	NP_001295051.1:p.Val437Leu
NM_003060.3:c.1237G>C	NP_003051.1:p.Val413Leu
XM_011543590.1:c.619G>C	XP_011541892.1:p.Val207Leu
XR_427718.1:n.1597G>C
XR_948290.1:n.1394-1559G>C
XR_948291.1:n.1591G>C
XM_011543590.2:c.619G>C	XP_011541892.1:p.Val207Leu
XM_017009778.2:c.709G>C	XP_016865267.1:p.Val237Leu
XR_001742215.1:n.1492G>C
XR_001742216.1:n.1511G>C
XR_427718.2:n.1597G>C
XR_948290.2:n.1394-1559G>C
XR_948291.2:n.1591G>C
NM_003060.4:c.1237G>C MANE Select	NP_003051.1:p.Val413Leu
NM_001308122.2:c.1309G>C	NP_001295051.1:p.Val437Leu