Canonical Allele Identifier: CA3404086

Gene: SLC22A5

Linked Data

• ClinVar Variation Id: 2265460
• ClinVar RCV Id: RCV002808877
• dbSNP Id: rs550832951
• ExAC: 5:131726456 G / T
• gnomAD v2: 5-131726456-G-T
• gnomAD v3: 5-132390764-G-T
• gnomAD v4: 5-132390764-G-T
• MyVariant Identifiers: chr5:g.131726456G>T (hg19) ; chr5:g.132390764G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390764G>T , CM000667.2:g.132390764G>T	GRCh38
NC_000005.9:g.131726456G>T , CM000667.1:g.131726456G>T	GRCh37
NC_000005.8:g.131754355G>T	NCBI36
NG_008982.1:g.26056G>T
NG_008982.2:g.26061G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.968G>T	ENSP00000388838.2:p.Cys323Phe
ENST00000435065.7:c.1199G>T	ENSP00000402760.2:p.Cys400Phe
ENST00000448810.6:c.1053-12G>T	ENSP00000401860.2:n.1053-12G>T
ENST00000685543.1:n.1268G>T
ENST00000686757.1:c.*291G>T	ENSP00000510721.1:n.*291G>T
ENST00000687740.1:n.3812G>T
ENST00000688151.1:n.2437G>T
ENST00000689271.1:c.974G>T	ENSP00000510797.1:p.Cys325Phe
ENST00000690900.1:c.*291G>T	ENSP00000510703.1:n.*291G>T
ENST00000692212.1:n.2739G>T
ENST00000692355.1:c.380G>T
ENST00000692413.1:c.1109G>T	ENSP00000509374.1:p.Cys370Phe
ENST00000692825.1:c.1195G>T	ENSP00000509447.1:n.1195G>T
ENST00000693308.1:c.1175G>T	ENSP00000509770.1:p.Cys392Phe
ENST00000693763.1:n.2287G>T
ENST00000245407.8:c.1127G>T MANE Select	ENSP00000245407.3:p.Cys376Phe
ENST00000245407.7:c.1127G>T	ENSP00000245407.3:p.Cys376Phe
ENST00000435065.6:c.1199G>T	ENSP00000402760.2:p.Cys400Phe
ENST00000447841.5:c.112-1669G>T
ENST00000448810.5:c.401-12G>T
ENST00000461013.5:n.8549G>T
ENST00000475308.1:n.1805G>T
ENST00000479605.5:n.230G>T
NM_001308122.1:c.1199G>T	NP_001295051.1:p.Cys400Phe
NM_003060.3:c.1127G>T	NP_003051.1:p.Cys376Phe
XM_011543590.1:c.509G>T	XP_011541892.1:p.Cys170Phe
XR_427718.1:n.1487G>T
XR_948290.1:n.1394-1669G>T
XR_948291.1:n.1481G>T
XM_011543590.2:c.509G>T	XP_011541892.1:p.Cys170Phe
XM_017009778.2:c.599G>T	XP_016865267.1:p.Cys200Phe
XR_001742215.1:n.1394-12G>T
XR_001742216.1:n.1413-12G>T
XR_427718.2:n.1487G>T
XR_948290.2:n.1394-1669G>T
XR_948291.2:n.1481G>T
NM_003060.4:c.1127G>T MANE Select	NP_003051.1:p.Cys376Phe
NM_001308122.2:c.1199G>T	NP_001295051.1:p.Cys400Phe