Canonical Allele Identifier: CA360805543

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131722740G>C (hg19) ; chr5:g.132387048G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132387048G>C , CM000667.2:g.132387048G>C	GRCh38
NC_000005.9:g.131722740G>C , CM000667.1:g.131722740G>C	GRCh37
NC_000005.8:g.131750639G>C	NCBI36
NG_008982.1:g.22340G>C
NG_008982.2:g.22345G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.689G>C	ENSP00000388838.2:p.Trp230Ser
ENST00000435065.7:c.920G>C	ENSP00000402760.2:p.Trp307Ser
ENST00000448810.6:c.848G>C	ENSP00000401860.2:p.Trp283Ser
ENST00000686757.1:c.*12G>C	ENSP00000510721.1:n.*12G>C
ENST00000687740.1:n.3533G>C
ENST00000688151.1:n.2158G>C
ENST00000689271.1:c.695G>C	ENSP00000510797.1:p.Trp232Ser
ENST00000690900.1:c.*12G>C	ENSP00000510703.1:n.*12G>C
ENST00000692212.1:n.792G>C
ENST00000692355.1:c.205-1873G>C
ENST00000692413.1:c.844-14G>C	ENSP00000509374.1:n.844-14G>C
ENST00000692825.1:c.916G>C	ENSP00000509447.1:n.916G>C
ENST00000693308.1:c.896G>C	ENSP00000509770.1:p.Trp299Ser
ENST00000693763.1:n.2008G>C
ENST00000245407.8:c.848G>C MANE Select	ENSP00000245407.3:p.Trp283Ser
ENST00000245407.7:c.848G>C	ENSP00000245407.3:p.Trp283Ser
ENST00000415928.5:c.617G>C	ENSP00000388838.1:p.Trp206Ser
ENST00000435065.6:c.920G>C	ENSP00000402760.2:p.Trp307Ser
ENST00000437841.6:c.*163G>C	ENSP00000400553.1:n.*163G>C
ENST00000448810.5:c.196G>C
ENST00000461013.5:n.8270G>C
NM_001308122.1:c.920G>C	NP_001295051.1:p.Trp307Ser
NM_003060.3:c.848G>C	NP_003051.1:p.Trp283Ser
XM_011543590.1:c.230G>C	XP_011541892.1:p.Trp77Ser
XR_427718.1:n.1208G>C
XR_948290.1:n.1189G>C
XR_948291.1:n.1202G>C
XM_011543590.2:c.230G>C	XP_011541892.1:p.Trp77Ser
XM_017009778.2:c.320G>C	XP_016865267.1:p.Trp107Ser
XR_001742215.1:n.1189G>C
XR_001742216.1:n.1208G>C
XR_427718.2:n.1208G>C
XR_948290.2:n.1189G>C
XR_948291.2:n.1202G>C
NM_003060.4:c.848G>C MANE Select	NP_003051.1:p.Trp283Ser
NM_001308122.2:c.920G>C	NP_001295051.1:p.Trp307Ser