Canonical Allele Identifier: CA1583144537
Gene: SLC22A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132393752C= , CM000667.2:g.132393752C= GRCh38
NC_000005.9:g.131729444C= , CM000667.1:g.131729444C= GRCh37
NC_000005.8:g.131757343C= NCBI36
NG_008982.1:g.29044C=
NG_008982.2:g.29049C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.1292-433C= ENSP00000388838.2:n.1292-433C=
ENST00000435065.7:c.1599C= ENSP00000402760.2:p.Leu533=
ENST00000448810.6:c.*379C= ENSP00000401860.2:n.*379C=
ENST00000685543.1:n.1668C=
ENST00000686757.1:c.*691C= ENSP00000510721.1:n.*691C=
ENST00000686868.1:n.519C=
ENST00000687740.1:n.4212C=
ENST00000688151.1:n.2837C=
ENST00000689271.1:c.1374C= ENSP00000510797.1:p.Leu458=
ENST00000690900.1:c.*691C= ENSP00000510703.1:n.*691C=
ENST00000692212.1:n.4667C=
ENST00000692355.1:c.780C=
ENST00000692413.1:c.1509C= ENSP00000509374.1:p.Leu503=
ENST00000692825.1:c.1595C= ENSP00000509447.1:n.1595C=
ENST00000693308.1:c.1575C= ENSP00000509770.1:p.Leu525=
ENST00000693763.1:n.2687C=
ENST00000245407.8:c.1527C= MANE Select ENSP00000245407.3:p.Leu509=
ENST00000245407.7:c.1527C= ENSP00000245407.3:p.Leu509=
ENST00000435065.6:c.1599C= ENSP00000402760.2:p.Leu533=
ENST00000447841.5:c.371C=
ENST00000448810.5:c.789C=
ENST00000461013.5:n.8949C=
ENST00000475308.1:n.2205C=
NM_001308122.1:c.1599C= NP_001295051.1:p.Leu533=
NM_003060.3:c.1527C= NP_003051.1:p.Leu509=
XM_011543590.1:c.909C= XP_011541892.1:p.Leu303=
XR_948290.1:n.1653C=
XM_011543590.2:c.909C= XP_011541892.1:p.Leu303=
XM_017009778.2:c.999C= XP_016865267.1:p.Leu333=
XR_001742215.1:n.1782C=
XR_001742216.1:n.1801C=
XR_427718.2:n.1887C=
XR_948290.2:n.1653C=
XR_948291.2:n.1881C=
NM_003060.4:c.1527C= MANE Select NP_003051.1:p.Leu509=
NM_001308122.2:c.1599C= NP_001295051.1:p.Leu533=