Canonical Allele Identifier: CA446340176

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131726586G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390894G>C , CM000667.2:g.132390894G>C	GRCh38
NC_000005.9:g.131726586G>C , CM000667.1:g.131726586G>C	GRCh37
NC_000005.8:g.131754485G>C	NCBI36
NG_008982.1:g.26186G>C
NG_008982.2:g.26191G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1098G>C	ENSP00000388838.2:p.Leu366=
ENST00000435065.7:c.1329G>C	ENSP00000402760.2:p.Leu443=
ENST00000448810.6:c.*109G>C	ENSP00000401860.2:n.*109G>C
ENST00000685543.1:n.1398G>C
ENST00000686757.1:c.*421G>C	ENSP00000510721.1:n.*421G>C
ENST00000687740.1:n.3942G>C
ENST00000688151.1:n.2567G>C
ENST00000689271.1:c.1104G>C	ENSP00000510797.1:p.Leu368=
ENST00000690900.1:c.*421G>C	ENSP00000510703.1:n.*421G>C
ENST00000692212.1:n.2869G>C
ENST00000692355.1:c.510G>C
ENST00000692413.1:c.1239G>C	ENSP00000509374.1:p.Leu413=
ENST00000692825.1:c.1325G>C	ENSP00000509447.1:n.1325G>C
ENST00000693308.1:c.1305G>C	ENSP00000509770.1:p.Leu435=
ENST00000693763.1:n.2417G>C
ENST00000245407.8:c.1257G>C MANE Select	ENSP00000245407.3:p.Leu419=
ENST00000245407.7:c.1257G>C	ENSP00000245407.3:p.Leu419=
ENST00000435065.6:c.1329G>C	ENSP00000402760.2:p.Leu443=
ENST00000447841.5:c.112-1539G>C
ENST00000448810.5:c.519G>C
ENST00000461013.5:n.8679G>C
ENST00000475308.1:n.1935G>C
ENST00000479605.5:n.360G>C
NM_001308122.1:c.1329G>C	NP_001295051.1:p.Leu443=
NM_003060.3:c.1257G>C	NP_003051.1:p.Leu419=
XM_011543590.1:c.639G>C	XP_011541892.1:p.Leu213=
XR_427718.1:n.1617G>C
XR_948290.1:n.1394-1539G>C
XR_948291.1:n.1611G>C
XM_011543590.2:c.639G>C	XP_011541892.1:p.Leu213=
XM_017009778.2:c.729G>C	XP_016865267.1:p.Leu243=
XR_001742215.1:n.1512G>C
XR_001742216.1:n.1531G>C
XR_427718.2:n.1617G>C
XR_948290.2:n.1394-1539G>C
XR_948291.2:n.1611G>C
NM_003060.4:c.1257G>C MANE Select	NP_003051.1:p.Leu419=
NM_001308122.2:c.1329G>C	NP_001295051.1:p.Leu443=