Canonical Allele Identifier: CA360807789

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131726558G>C (hg19) ; chr5:g.132390866G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390866G>C , CM000667.2:g.132390866G>C	GRCh38
NC_000005.9:g.131726558G>C , CM000667.1:g.131726558G>C	GRCh37
NC_000005.8:g.131754457G>C	NCBI36
NG_008982.1:g.26158G>C
NG_008982.2:g.26163G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1070G>C	ENSP00000388838.2:p.Gly357Ala
ENST00000435065.7:c.1301G>C	ENSP00000402760.2:p.Gly434Ala
ENST00000448810.6:c.*81G>C	ENSP00000401860.2:n.*81G>C
ENST00000685543.1:n.1370G>C
ENST00000686757.1:c.*393G>C	ENSP00000510721.1:n.*393G>C
ENST00000687740.1:n.3914G>C
ENST00000688151.1:n.2539G>C
ENST00000689271.1:c.1076G>C	ENSP00000510797.1:p.Gly359Ala
ENST00000690900.1:c.*393G>C	ENSP00000510703.1:n.*393G>C
ENST00000692212.1:n.2841G>C
ENST00000692355.1:c.482G>C
ENST00000692413.1:c.1211G>C	ENSP00000509374.1:p.Gly404Ala
ENST00000692825.1:c.1297G>C	ENSP00000509447.1:n.1297G>C
ENST00000693308.1:c.1277G>C	ENSP00000509770.1:p.Gly426Ala
ENST00000693763.1:n.2389G>C
ENST00000245407.8:c.1229G>C MANE Select	ENSP00000245407.3:p.Gly410Ala
ENST00000245407.7:c.1229G>C	ENSP00000245407.3:p.Gly410Ala
ENST00000435065.6:c.1301G>C	ENSP00000402760.2:p.Gly434Ala
ENST00000447841.5:c.112-1567G>C
ENST00000448810.5:c.491G>C
ENST00000461013.5:n.8651G>C
ENST00000475308.1:n.1907G>C
ENST00000479605.5:n.332G>C
NM_001308122.1:c.1301G>C	NP_001295051.1:p.Gly434Ala
NM_003060.3:c.1229G>C	NP_003051.1:p.Gly410Ala
XM_011543590.1:c.611G>C	XP_011541892.1:p.Gly204Ala
XR_427718.1:n.1589G>C
XR_948290.1:n.1394-1567G>C
XR_948291.1:n.1583G>C
XM_011543590.2:c.611G>C	XP_011541892.1:p.Gly204Ala
XM_017009778.2:c.701G>C	XP_016865267.1:p.Gly234Ala
XR_001742215.1:n.1484G>C
XR_001742216.1:n.1503G>C
XR_427718.2:n.1589G>C
XR_948290.2:n.1394-1567G>C
XR_948291.2:n.1583G>C
NM_003060.4:c.1229G>C MANE Select	NP_003051.1:p.Gly410Ala
NM_001308122.2:c.1301G>C	NP_001295051.1:p.Gly434Ala