Canonical Allele Identifier: CA360810161

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131729889A>C (hg19) ; chr5:g.132394197A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132394197A>C , CM000667.2:g.132394197A>C	GRCh38
NC_000005.9:g.131729889A>C , CM000667.1:g.131729889A>C	GRCh37
NC_000005.8:g.131757788A>C	NCBI36
NG_008982.1:g.29489A>C
NG_008982.2:g.29494A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.*8A>C	ENSP00000388838.2:n.*8A>C
ENST00000435065.7:c.1671A>C	ENSP00000402760.2:p.Arg557Ser
ENST00000448810.6:c.*451A>C	ENSP00000401860.2:n.*451A>C
ENST00000685543.1:n.1740A>C
ENST00000686757.1:c.*763A>C	ENSP00000510721.1:n.*763A>C
ENST00000686868.1:n.591A>C
ENST00000687740.1:n.4284A>C
ENST00000688151.1:n.2909A>C
ENST00000689271.1:c.1446A>C	ENSP00000510797.1:p.Arg482Ser
ENST00000690900.1:c.*763A>C	ENSP00000510703.1:n.*763A>C
ENST00000692212.1:n.4739A>C
ENST00000692355.1:c.852A>C
ENST00000692413.1:c.1581A>C	ENSP00000509374.1:p.Arg527Ser
ENST00000692825.1:c.1667A>C	ENSP00000509447.1:n.1667A>C
ENST00000693308.1:c.1647A>C	ENSP00000509770.1:p.Arg549Ser
ENST00000693763.1:n.2759A>C
ENST00000245407.8:c.1599A>C MANE Select	ENSP00000245407.3:p.Arg533Ser
ENST00000245407.7:c.1599A>C	ENSP00000245407.3:p.Arg533Ser
ENST00000435065.6:c.1671A>C	ENSP00000402760.2:p.Arg557Ser
ENST00000447841.5:c.443A>C
ENST00000461013.5:n.9021A>C
ENST00000475308.1:n.2277A>C
NM_001308122.1:c.1671A>C	NP_001295051.1:p.Arg557Ser
NM_003060.3:c.1599A>C	NP_003051.1:p.Arg533Ser
XM_011543590.1:c.981A>C	XP_011541892.1:p.Arg327Ser
XR_948290.1:n.1725A>C
XM_011543590.2:c.981A>C	XP_011541892.1:p.Arg327Ser
XM_017009778.2:c.1071A>C	XP_016865267.1:p.Arg357Ser
XR_001742215.1:n.1854A>C
XR_001742216.1:n.1873A>C
XR_427718.2:n.1959A>C
XR_948290.2:n.1725A>C
XR_948291.2:n.1953A>C
NM_003060.4:c.1599A>C MANE Select	NP_003051.1:p.Arg533Ser
NM_001308122.2:c.1671A>C	NP_001295051.1:p.Arg557Ser