Canonical Allele Identifier: CA360807616

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131726473G>C (hg19) ; chr5:g.132390781G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390781G>C , CM000667.2:g.132390781G>C	GRCh38
NC_000005.9:g.131726473G>C , CM000667.1:g.131726473G>C	GRCh37
NC_000005.8:g.131754372G>C	NCBI36
NG_008982.1:g.26073G>C
NG_008982.2:g.26078G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.985G>C	ENSP00000388838.2:p.Val329Leu
ENST00000435065.7:c.1216G>C	ENSP00000402760.2:p.Val406Leu
ENST00000448810.6:c.1058G>C	ENSP00000401860.2:p.Gly353Ala
ENST00000685543.1:n.1285G>C
ENST00000686757.1:c.*308G>C	ENSP00000510721.1:n.*308G>C
ENST00000687740.1:n.3829G>C
ENST00000688151.1:n.2454G>C
ENST00000689271.1:c.991G>C	ENSP00000510797.1:p.Val331Leu
ENST00000690900.1:c.*308G>C	ENSP00000510703.1:n.*308G>C
ENST00000692212.1:n.2756G>C
ENST00000692355.1:c.397G>C
ENST00000692413.1:c.1126G>C	ENSP00000509374.1:p.Val376Leu
ENST00000692825.1:c.1212G>C	ENSP00000509447.1:n.1212G>C
ENST00000693308.1:c.1192G>C	ENSP00000509770.1:p.Val398Leu
ENST00000693763.1:n.2304G>C
ENST00000245407.8:c.1144G>C MANE Select	ENSP00000245407.3:p.Val382Leu
ENST00000245407.7:c.1144G>C	ENSP00000245407.3:p.Val382Leu
ENST00000435065.6:c.1216G>C	ENSP00000402760.2:p.Val406Leu
ENST00000447841.5:c.112-1652G>C
ENST00000448810.5:c.406G>C
ENST00000461013.5:n.8566G>C
ENST00000475308.1:n.1822G>C
ENST00000479605.5:n.247G>C
NM_001308122.1:c.1216G>C	NP_001295051.1:p.Val406Leu
NM_003060.3:c.1144G>C	NP_003051.1:p.Val382Leu
XM_011543590.1:c.526G>C	XP_011541892.1:p.Val176Leu
XR_427718.1:n.1504G>C
XR_948290.1:n.1394-1652G>C
XR_948291.1:n.1498G>C
XM_011543590.2:c.526G>C	XP_011541892.1:p.Val176Leu
XM_017009778.2:c.616G>C	XP_016865267.1:p.Val206Leu
XR_001742215.1:n.1399G>C
XR_001742216.1:n.1418G>C
XR_427718.2:n.1504G>C
XR_948290.2:n.1394-1652G>C
XR_948291.2:n.1498G>C
NM_003060.4:c.1144G>C MANE Select	NP_003051.1:p.Val382Leu
NM_001308122.2:c.1216G>C	NP_001295051.1:p.Val406Leu