Canonical Allele Identifier: CA360802821

Gene: SLC22A5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132370300C>T , CM000667.2:g.132370300C>T	GRCh38
NC_000005.9:g.131705992C>T , CM000667.1:g.131705992C>T	GRCh37
NC_000005.8:g.131733891C>T	NCBI36
NG_008982.1:g.5592C>T
NG_008982.2:g.5597C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003060.4:c.328C>T MANE Select	NP_003051.1:p.Gln110Ter
ENST00000245407.8:c.328C>T MANE Select	ENSP00000245407.3:p.Gln110Ter
NM_001308122.1:c.328C>T	NP_001295051.1:p.Gln110Ter
NM_001308122.2:c.328C>T	NP_001295051.1:p.Gln110Ter
NM_003060.3:c.328C>T	NP_003051.1:p.Gln110Ter
ENST00000245407.7:c.328C>T	ENSP00000245407.3:p.Gln110Ter
ENST00000415928.5:c.25C>T	ENSP00000388838.1:p.Gln9Ter
ENST00000415928.6:c.328C>T	ENSP00000388838.2:p.Gln110Ter
ENST00000435065.6:c.328C>T	ENSP00000402760.2:p.Gln110Ter
ENST00000435065.7:c.328C>T	ENSP00000402760.2:p.Gln110Ter
ENST00000437841.6:c.328C>T	ENSP00000400553.1:p.Gln110Ter
ENST00000448810.6:c.328C>T	ENSP00000401860.2:p.Gln110Ter
ENST00000686757.1:c.328C>T	ENSP00000510721.1:p.Gln110Ter
ENST00000687740.1:n.462C>T
ENST00000689271.1:c.328C>T	ENSP00000510797.1:p.Gln110Ter
ENST00000690900.1:c.328C>T	ENSP00000510703.1:p.Gln110Ter
ENST00000692413.1:c.328C>T	ENSP00000509374.1:p.Gln110Ter
ENST00000692825.1:c.328C>T	ENSP00000509447.1:p.Gln110Ter
ENST00000693308.1:c.328C>T	ENSP00000509770.1:p.Gln110Ter
ENST00000693763.1:n.462C>T
XM_011543590.2:c.-304C>T	XP_011541892.1:n.-304C>T
XR_001742215.1:n.597C>T
XR_001742216.1:n.597C>T
XR_427718.1:n.597C>T
XR_427718.2:n.597C>T
XR_948290.1:n.597C>T
XR_948290.2:n.597C>T
XR_948291.1:n.597C>T
XR_948291.2:n.597C>T