Canonical Allele Identifier: CA446339515

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131726526G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390834G>C , CM000667.2:g.132390834G>C	GRCh38
NC_000005.9:g.131726526G>C , CM000667.1:g.131726526G>C	GRCh37
NC_000005.8:g.131754425G>C	NCBI36
NG_008982.1:g.26126G>C
NG_008982.2:g.26131G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.1038G>C	ENSP00000388838.2:p.Arg346=
ENST00000435065.7:c.1269G>C	ENSP00000402760.2:p.Arg423=
ENST00000448810.6:c.*49G>C	ENSP00000401860.2:n.*49G>C
ENST00000685543.1:n.1338G>C
ENST00000686757.1:c.*361G>C	ENSP00000510721.1:n.*361G>C
ENST00000687740.1:n.3882G>C
ENST00000688151.1:n.2507G>C
ENST00000689271.1:c.1044G>C	ENSP00000510797.1:p.Arg348=
ENST00000690900.1:c.*361G>C	ENSP00000510703.1:n.*361G>C
ENST00000692212.1:n.2809G>C
ENST00000692355.1:c.450G>C
ENST00000692413.1:c.1179G>C	ENSP00000509374.1:p.Arg393=
ENST00000692825.1:c.1265G>C	ENSP00000509447.1:n.1265G>C
ENST00000693308.1:c.1245G>C	ENSP00000509770.1:p.Arg415=
ENST00000693763.1:n.2357G>C
ENST00000245407.8:c.1197G>C MANE Select	ENSP00000245407.3:p.Arg399=
ENST00000245407.7:c.1197G>C	ENSP00000245407.3:p.Arg399=
ENST00000435065.6:c.1269G>C	ENSP00000402760.2:p.Arg423=
ENST00000447841.5:c.112-1599G>C
ENST00000448810.5:c.459G>C
ENST00000461013.5:n.8619G>C
ENST00000475308.1:n.1875G>C
ENST00000479605.5:n.300G>C
NM_001308122.1:c.1269G>C	NP_001295051.1:p.Arg423=
NM_003060.3:c.1197G>C	NP_003051.1:p.Arg399=
XM_011543590.1:c.579G>C	XP_011541892.1:p.Arg193=
XR_427718.1:n.1557G>C
XR_948290.1:n.1394-1599G>C
XR_948291.1:n.1551G>C
XM_011543590.2:c.579G>C	XP_011541892.1:p.Arg193=
XM_017009778.2:c.669G>C	XP_016865267.1:p.Arg223=
XR_001742215.1:n.1452G>C
XR_001742216.1:n.1471G>C
XR_427718.2:n.1557G>C
XR_948290.2:n.1394-1599G>C
XR_948291.2:n.1551G>C
NM_003060.4:c.1197G>C MANE Select	NP_003051.1:p.Arg399=
NM_001308122.2:c.1269G>C	NP_001295051.1:p.Arg423=