Canonical Allele Identifier: CA2768436126
Gene: SLC22A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132386993G>T , CM000667.2:g.132386993G>T GRCh38
NC_000005.9:g.131722685G>T , CM000667.1:g.131722685G>T GRCh37
NC_000005.8:g.131750584G>T NCBI36
NG_008982.1:g.22285G>T
NG_008982.2:g.22290G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.666-32G>T ENSP00000388838.2:n.666-32G>T
ENST00000435065.7:c.897-32G>T ENSP00000402760.2:n.897-32G>T
ENST00000448810.6:c.825-32G>T ENSP00000401860.2:n.825-32G>T
ENST00000686757.1:c.844-32G>T ENSP00000510721.1:n.844-32G>T
ENST00000687740.1:n.3478G>T
ENST00000688151.1:n.2135-32G>T
ENST00000689271.1:c.672-32G>T ENSP00000510797.1:n.672-32G>T
ENST00000690900.1:c.796-32G>T ENSP00000510703.1:n.796-32G>T
ENST00000692212.1:n.769-32G>T
ENST00000692355.1:c.205-1928G>T
ENST00000692413.1:c.844-69G>T ENSP00000509374.1:n.844-69G>T
ENST00000692825.1:c.893-32G>T ENSP00000509447.1:n.893-32G>T
ENST00000693308.1:c.841G>T ENSP00000509770.1:p.Gly281Cys
ENST00000693763.1:n.1985-32G>T
ENST00000245407.8:c.825-32G>T MANE Select ENSP00000245407.3:n.825-32G>T
ENST00000245407.7:c.825-32G>T ENSP00000245407.3:n.825-32G>T
ENST00000415928.5:c.594-32G>T ENSP00000388838.1:n.594-32G>T
ENST00000435065.6:c.897-32G>T ENSP00000402760.2:n.897-32G>T
ENST00000437841.6:c.*140-32G>T ENSP00000400553.1:n.*140-32G>T
ENST00000448810.5:c.173-32G>T
ENST00000461013.5:n.8247-32G>T
NM_001308122.1:c.897-32G>T NP_001295051.1:n.897-32G>T
NM_003060.3:c.825-32G>T NP_003051.1:n.825-32G>T
XM_011543590.1:c.207-32G>T XP_011541892.1:n.207-32G>T
XR_427718.1:n.1185-32G>T
XR_948290.1:n.1166-32G>T
XR_948291.1:n.1179-32G>T
XM_011543590.2:c.207-32G>T XP_011541892.1:n.207-32G>T
XM_017009778.2:c.297-32G>T XP_016865267.1:n.297-32G>T
XR_001742215.1:n.1166-32G>T
XR_001742216.1:n.1185-32G>T
XR_427718.2:n.1185-32G>T
XR_948290.2:n.1166-32G>T
XR_948291.2:n.1179-32G>T
NM_003060.4:c.825-32G>T MANE Select NP_003051.1:n.825-32G>T
NM_001308122.2:c.897-32G>T NP_001295051.1:n.897-32G>T