Canonical Allele Identifier: CA2768436362

Gene: SLC22A5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132389032G>C , CM000667.2:g.132389032G>C	GRCh38
NC_000005.9:g.131724724G>C , CM000667.1:g.131724724G>C	GRCh37
NC_000005.8:g.131752623G>C	NCBI36
NG_008982.1:g.24324G>C
NG_008982.2:g.24329G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.893+11G>C	ENSP00000388838.2:n.893+11G>C
ENST00000435065.7:c.1124+11G>C	ENSP00000402760.2:n.1124+11G>C
ENST00000448810.6:c.1052+11G>C	ENSP00000401860.2:n.1052+11G>C
ENST00000685543.1:n.1193+11G>C
ENST00000686757.1:c.*216+11G>C	ENSP00000510721.1:n.*216+11G>C
ENST00000687740.1:n.3737+11G>C
ENST00000688151.1:n.2362+11G>C
ENST00000689271.1:c.899+11G>C	ENSP00000510797.1:n.899+11G>C
ENST00000690900.1:c.*216+11G>C	ENSP00000510703.1:n.*216+11G>C
ENST00000692212.1:n.1007G>C
ENST00000692355.1:c.305+11G>C
ENST00000692413.1:c.1034+11G>C	ENSP00000509374.1:n.1034+11G>C
ENST00000692825.1:c.1120+11G>C	ENSP00000509447.1:n.1120+11G>C
ENST00000693308.1:c.1100+11G>C	ENSP00000509770.1:n.1100+11G>C
ENST00000693763.1:n.2212+11G>C
ENST00000245407.8:c.1052+11G>C MANE Select	ENSP00000245407.3:n.1052+11G>C
ENST00000245407.7:c.1052+11G>C	ENSP00000245407.3:n.1052+11G>C
ENST00000435065.6:c.1124+11G>C	ENSP00000402760.2:n.1124+11G>C
ENST00000447841.5:c.111+11G>C
ENST00000448810.5:c.400+11G>C
ENST00000461013.5:n.8474+11G>C
ENST00000475308.1:n.73G>C
ENST00000479605.5:n.155+11G>C
NM_001308122.1:c.1124+11G>C	NP_001295051.1:n.1124+11G>C
NM_003060.3:c.1052+11G>C	NP_003051.1:n.1052+11G>C
XM_011543590.1:c.434+11G>C	XP_011541892.1:n.434+11G>C
XR_427718.1:n.1412+11G>C
XR_948290.1:n.1393+11G>C
XR_948291.1:n.1406+11G>C
XM_011543590.2:c.434+11G>C	XP_011541892.1:n.434+11G>C
XM_017009778.2:c.524+11G>C	XP_016865267.1:n.524+11G>C
XR_001742215.1:n.1393+11G>C
XR_001742216.1:n.1412+11G>C
XR_427718.2:n.1412+11G>C
XR_948290.2:n.1393+11G>C
XR_948291.2:n.1406+11G>C
NM_003060.4:c.1052+11G>C MANE Select	NP_003051.1:n.1052+11G>C
NM_001308122.2:c.1124+11G>C	NP_001295051.1:n.1124+11G>C