Canonical Allele Identifier: CA3404149
Gene: SLC22A5 HGNC NCBI
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132392568C>A , CM000667.2:g.132392568C>A GRCh38
NC_000005.9:g.131728260C>A , CM000667.1:g.131728260C>A GRCh37
NC_000005.8:g.131756159C>A NCBI36
NG_008982.1:g.27860C>A
NG_008982.2:g.27865C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.1244C>A ENSP00000388838.2:p.Thr415Lys
ENST00000435065.7:c.1475C>A ENSP00000402760.2:p.Thr492Lys
ENST00000448810.6:c.*255C>A ENSP00000401860.2:n.*255C>A
ENST00000685543.1:n.1544C>A
ENST00000686757.1:c.*567C>A ENSP00000510721.1:n.*567C>A
ENST00000687740.1:n.4088C>A
ENST00000688151.1:n.2713C>A
ENST00000689271.1:c.1250C>A ENSP00000510797.1:p.Thr417Lys
ENST00000690900.1:c.*567C>A ENSP00000510703.1:n.*567C>A
ENST00000692212.1:n.4543C>A
ENST00000692355.1:c.656C>A
ENST00000692413.1:c.1385C>A ENSP00000509374.1:p.Thr462Lys
ENST00000692825.1:c.1471C>A ENSP00000509447.1:n.1471C>A
ENST00000693308.1:c.1451C>A ENSP00000509770.1:p.Thr484Lys
ENST00000693763.1:n.2563C>A
ENST00000245407.8:c.1403C>A MANE Select ENSP00000245407.3:p.Thr468Lys
ENST00000245407.7:c.1403C>A ENSP00000245407.3:p.Thr468Lys
ENST00000435065.6:c.1475C>A ENSP00000402760.2:p.Thr492Lys
ENST00000447841.5:c.247C>A
ENST00000448810.5:c.665C>A
ENST00000461013.5:n.8825C>A
ENST00000475308.1:n.2081C>A
ENST00000479605.5:n.506C>A
NM_001308122.1:c.1475C>A NP_001295051.1:p.Thr492Lys
NM_003060.3:c.1403C>A NP_003051.1:p.Thr468Lys
XM_011543590.1:c.785C>A XP_011541892.1:p.Thr262Lys
XR_948290.1:n.1529C>A
XM_011543590.2:c.785C>A XP_011541892.1:p.Thr262Lys
XM_017009778.2:c.875C>A XP_016865267.1:p.Thr292Lys
XR_001742215.1:n.1658C>A
XR_001742216.1:n.1677C>A
XR_427718.2:n.1763C>A
XR_948290.2:n.1529C>A
XR_948291.2:n.1757C>A
NM_003060.4:c.1403C>A MANE Select NP_003051.1:p.Thr468Lys
NM_001308122.2:c.1475C>A NP_001295051.1:p.Thr492Lys