Canonical Allele Identifier: CA1583141229
Gene: SLC22A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132378187T= , CM000667.2:g.132378187T= GRCh38
NC_000005.9:g.131713879T= , CM000667.1:g.131713879T= GRCh37
NC_000005.8:g.131741778T= NCBI36
NG_008982.1:g.13479T=
NG_008982.2:g.13484T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.394-191T= ENSP00000388838.2:n.394-191T=
ENST00000435065.7:c.417T= ENSP00000402760.2:p.Ala139=
ENST00000448810.6:c.394-191T= ENSP00000401860.2:n.394-191T=
ENST00000686757.1:c.394-191T= ENSP00000510721.1:n.394-191T=
ENST00000687740.1:n.528-191T=
ENST00000689271.1:c.394-191T= ENSP00000510797.1:n.394-191T=
ENST00000690900.1:c.394-191T= ENSP00000510703.1:n.394-191T=
ENST00000692413.1:c.394-191T= ENSP00000509374.1:n.394-191T=
ENST00000692825.1:c.413T= ENSP00000509447.1:p.Leu138=
ENST00000693308.1:c.394-191T= ENSP00000509770.1:n.394-191T=
ENST00000693763.1:n.528-191T=
ENST00000245407.8:c.394-191T= MANE Select ENSP00000245407.3:n.394-191T=
ENST00000245407.7:c.394-191T= ENSP00000245407.3:n.394-191T=
ENST00000415928.5:c.114T= ENSP00000388838.1:p.Ala38=
ENST00000435065.6:c.417T= ENSP00000402760.2:p.Ala139=
ENST00000437841.6:c.394-7141T= ENSP00000400553.1:n.394-7141T=
ENST00000461013.5:n.2102T=
NM_001308122.1:c.417T= NP_001295051.1:p.Ala139=
NM_003060.3:c.394-191T= NP_003051.1:n.394-191T=
XR_427718.1:n.686T=
XR_948290.1:n.686T=
XR_948291.1:n.686T=
XM_011543590.2:c.-238-191T= XP_011541892.1:n.-238-191T=
XM_017009778.2:c.-31-5960T= XP_016865267.1:n.-31-5960T=
XR_001742215.1:n.686T=
XR_001742216.1:n.686T=
XR_427718.2:n.686T=
XR_948290.2:n.686T=
XR_948291.2:n.686T=
NM_003060.4:c.394-191T= MANE Select NP_003051.1:n.394-191T=
NM_001308122.2:c.417T= NP_001295051.1:p.Ala139=