Canonical Allele Identifier: CA360810158

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131729888G>C (hg19) ; chr5:g.132394196G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132394196G>C , CM000667.2:g.132394196G>C	GRCh38
NC_000005.9:g.131729888G>C , CM000667.1:g.131729888G>C	GRCh37
NC_000005.8:g.131757787G>C	NCBI36
NG_008982.1:g.29488G>C
NG_008982.2:g.29493G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.*7G>C	ENSP00000388838.2:n.*7G>C
ENST00000435065.7:c.1670G>C	ENSP00000402760.2:p.Arg557Thr
ENST00000448810.6:c.*450G>C	ENSP00000401860.2:n.*450G>C
ENST00000685543.1:n.1739G>C
ENST00000686757.1:c.*762G>C	ENSP00000510721.1:n.*762G>C
ENST00000686868.1:n.590G>C
ENST00000687740.1:n.4283G>C
ENST00000688151.1:n.2908G>C
ENST00000689271.1:c.1445G>C	ENSP00000510797.1:p.Arg482Thr
ENST00000690900.1:c.*762G>C	ENSP00000510703.1:n.*762G>C
ENST00000692212.1:n.4738G>C
ENST00000692355.1:c.851G>C
ENST00000692413.1:c.1580G>C	ENSP00000509374.1:p.Arg527Thr
ENST00000692825.1:c.1666G>C	ENSP00000509447.1:n.1666G>C
ENST00000693308.1:c.1646G>C	ENSP00000509770.1:p.Arg549Thr
ENST00000693763.1:n.2758G>C
ENST00000245407.8:c.1598G>C MANE Select	ENSP00000245407.3:p.Arg533Thr
ENST00000245407.7:c.1598G>C	ENSP00000245407.3:p.Arg533Thr
ENST00000435065.6:c.1670G>C	ENSP00000402760.2:p.Arg557Thr
ENST00000447841.5:c.442G>C
ENST00000461013.5:n.9020G>C
ENST00000475308.1:n.2276G>C
NM_001308122.1:c.1670G>C	NP_001295051.1:p.Arg557Thr
NM_003060.3:c.1598G>C	NP_003051.1:p.Arg533Thr
XM_011543590.1:c.980G>C	XP_011541892.1:p.Arg327Thr
XR_948290.1:n.1724G>C
XM_011543590.2:c.980G>C	XP_011541892.1:p.Arg327Thr
XM_017009778.2:c.1070G>C	XP_016865267.1:p.Arg357Thr
XR_001742215.1:n.1853G>C
XR_001742216.1:n.1872G>C
XR_427718.2:n.1958G>C
XR_948290.2:n.1724G>C
XR_948291.2:n.1952G>C
NM_003060.4:c.1598G>C MANE Select	NP_003051.1:p.Arg533Thr
NM_001308122.2:c.1670G>C	NP_001295051.1:p.Arg557Thr