Canonical Allele Identifier: CA3403807
Gene: SLC22A5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1707680
dbSNP Id: rs749914366

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132370163A>T , CM000667.2:g.132370163A>T GRCh38
NC_000005.9:g.131705855A>T , CM000667.1:g.131705855A>T GRCh37
NC_000005.8:g.131733754A>T NCBI36
NG_008982.1:g.5455A>T
NG_008982.2:g.5460A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.191A>T ENSP00000388838.2:p.Asn64Ile
ENST00000435065.7:c.191A>T ENSP00000402760.2:p.Asn64Ile
ENST00000448810.6:c.191A>T ENSP00000401860.2:p.Asn64Ile
ENST00000686757.1:c.191A>T ENSP00000510721.1:p.Asn64Ile
ENST00000687740.1:n.325A>T
ENST00000689271.1:c.191A>T ENSP00000510797.1:p.Asn64Ile
ENST00000690900.1:c.191A>T ENSP00000510703.1:p.Asn64Ile
ENST00000692413.1:c.191A>T ENSP00000509374.1:p.Asn64Ile
ENST00000692825.1:c.191A>T ENSP00000509447.1:p.Asn64Ile
ENST00000693308.1:c.191A>T ENSP00000509770.1:p.Asn64Ile
ENST00000693763.1:n.325A>T
ENST00000245407.8:c.191A>T MANE Select ENSP00000245407.3:p.Asn64Ile
ENST00000245407.7:c.191A>T ENSP00000245407.3:p.Asn64Ile
ENST00000435065.6:c.191A>T ENSP00000402760.2:p.Asn64Ile
ENST00000437841.6:c.191A>T ENSP00000400553.1:p.Asn64Ile
NM_001308122.1:c.191A>T NP_001295051.1:p.Asn64Ile
NM_003060.3:c.191A>T NP_003051.1:p.Asn64Ile
XR_427718.1:n.460A>T
XR_948290.1:n.460A>T
XR_948291.1:n.460A>T
XM_011543590.2:c.-441A>T XP_011541892.1:n.-441A>T
XR_001742215.1:n.460A>T
XR_001742216.1:n.460A>T
XR_427718.2:n.460A>T
XR_948290.2:n.460A>T
XR_948291.2:n.460A>T
NM_003060.4:c.191A>T MANE Select NP_003051.1:p.Asn64Ile
NM_001308122.2:c.191A>T NP_001295051.1:p.Asn64Ile