Canonical Allele Identifier: CA360810159

Gene: SLC22A5

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.*7G>T	ENSP00000388838.2:n.*7G>T
ENST00000435065.7:c.1670G>T	ENSP00000402760.2:p.Arg557Ile
ENST00000448810.6:c.*450G>T	ENSP00000401860.2:n.*450G>T
ENST00000685543.1:n.1739G>T
ENST00000686757.1:c.*762G>T	ENSP00000510721.1:n.*762G>T
ENST00000686868.1:n.590G>T
ENST00000687740.1:n.4283G>T
ENST00000688151.1:n.2908G>T
ENST00000689271.1:c.1445G>T	ENSP00000510797.1:p.Arg482Ile
ENST00000690900.1:c.*762G>T	ENSP00000510703.1:n.*762G>T
ENST00000692212.1:n.4738G>T
ENST00000692355.1:c.851G>T
ENST00000692413.1:c.1580G>T	ENSP00000509374.1:p.Arg527Ile
ENST00000692825.1:c.1666G>T	ENSP00000509447.1:n.1666G>T
ENST00000693308.1:c.1646G>T	ENSP00000509770.1:p.Arg549Ile
ENST00000693763.1:n.2758G>T
ENST00000245407.8:c.1598G>T MANE Select	ENSP00000245407.3:p.Arg533Ile
ENST00000245407.7:c.1598G>T	ENSP00000245407.3:p.Arg533Ile
ENST00000435065.6:c.1670G>T	ENSP00000402760.2:p.Arg557Ile
ENST00000447841.5:c.442G>T
ENST00000461013.5:n.9020G>T
ENST00000475308.1:n.2276G>T
NM_001308122.1:c.1670G>T	NP_001295051.1:p.Arg557Ile
NM_003060.3:c.1598G>T	NP_003051.1:p.Arg533Ile
XM_011543590.1:c.980G>T	XP_011541892.1:p.Arg327Ile
XR_948290.1:n.1724G>T
XM_011543590.2:c.980G>T	XP_011541892.1:p.Arg327Ile
XM_017009778.2:c.1070G>T	XP_016865267.1:p.Arg357Ile
XR_001742215.1:n.1853G>T
XR_001742216.1:n.1872G>T
XR_427718.2:n.1958G>T
XR_948290.2:n.1724G>T
XR_948291.2:n.1952G>T
NM_003060.4:c.1598G>T MANE Select	NP_003051.1:p.Arg533Ile
NM_001308122.2:c.1670G>T	NP_001295051.1:p.Arg557Ile