Canonical Allele Identifier: CA3403831
Gene: SLC22A5 HGNC NCBI

Linked Data

ClinVar Variation Id: 460405
dbSNP Id: rs546442503

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132370244A>G , CM000667.2:g.132370244A>G GRCh38
NC_000005.9:g.131705936A>G , CM000667.1:g.131705936A>G GRCh37
NC_000005.8:g.131733835A>G NCBI36
NG_008982.1:g.5536A>G
NG_008982.2:g.5541A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.272A>G ENSP00000388838.2:p.Asn91Ser
ENST00000435065.7:c.272A>G ENSP00000402760.2:p.Asn91Ser
ENST00000448810.6:c.272A>G ENSP00000401860.2:p.Asn91Ser
ENST00000686757.1:c.272A>G ENSP00000510721.1:p.Asn91Ser
ENST00000687740.1:n.406A>G
ENST00000689271.1:c.272A>G ENSP00000510797.1:p.Asn91Ser
ENST00000690900.1:c.272A>G ENSP00000510703.1:p.Asn91Ser
ENST00000692413.1:c.272A>G ENSP00000509374.1:p.Asn91Ser
ENST00000692825.1:c.272A>G ENSP00000509447.1:p.Asn91Ser
ENST00000693308.1:c.272A>G ENSP00000509770.1:p.Asn91Ser
ENST00000693763.1:n.406A>G
ENST00000245407.8:c.272A>G MANE Select ENSP00000245407.3:p.Asn91Ser
ENST00000245407.7:c.272A>G ENSP00000245407.3:p.Asn91Ser
ENST00000435065.6:c.272A>G ENSP00000402760.2:p.Asn91Ser
ENST00000437841.6:c.272A>G ENSP00000400553.1:p.Asn91Ser
NM_001308122.1:c.272A>G NP_001295051.1:p.Asn91Ser
NM_003060.3:c.272A>G NP_003051.1:p.Asn91Ser
XR_427718.1:n.541A>G
XR_948290.1:n.541A>G
XR_948291.1:n.541A>G
XM_011543590.2:c.-360A>G XP_011541892.1:n.-360A>G
XR_001742215.1:n.541A>G
XR_001742216.1:n.541A>G
XR_427718.2:n.541A>G
XR_948290.2:n.541A>G
XR_948291.2:n.541A>G
NM_003060.4:c.272A>G MANE Select NP_003051.1:p.Asn91Ser
NM_001308122.2:c.272A>G NP_001295051.1:p.Asn91Ser