Canonical Allele Identifier: CA562770607

Gene: SLC22A5

Linked Data

• dbSNP Id: rs1230355933
• gnomAD v2: 5-131722713-C-T
• gnomAD v4: 5-132387021-C-T
• MyVariant Identifiers: chr5:g.131722713C>T (hg19) ; chr5:g.132387021C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132387021C>T , CM000667.2:g.132387021C>T	GRCh38
NC_000005.9:g.131722713C>T , CM000667.1:g.131722713C>T	GRCh37
NC_000005.8:g.131750612C>T	NCBI36
NG_008982.1:g.22313C>T
NG_008982.2:g.22318C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.666-4C>T	ENSP00000388838.2:n.666-4C>T
ENST00000435065.7:c.897-4C>T	ENSP00000402760.2:n.897-4C>T
ENST00000448810.6:c.825-4C>T	ENSP00000401860.2:n.825-4C>T
ENST00000686757.1:c.844-4C>T	ENSP00000510721.1:n.844-4C>T
ENST00000687740.1:n.3506C>T
ENST00000688151.1:n.2135-4C>T
ENST00000689271.1:c.672-4C>T	ENSP00000510797.1:n.672-4C>T
ENST00000690900.1:c.796-4C>T	ENSP00000510703.1:n.796-4C>T
ENST00000692212.1:n.769-4C>T
ENST00000692355.1:c.205-1900C>T
ENST00000692413.1:c.844-41C>T	ENSP00000509374.1:n.844-41C>T
ENST00000692825.1:c.893-4C>T	ENSP00000509447.1:n.893-4C>T
ENST00000693308.1:c.869C>T	ENSP00000509770.1:p.Ala290Val
ENST00000693763.1:n.1985-4C>T
ENST00000245407.8:c.825-4C>T MANE Select	ENSP00000245407.3:n.825-4C>T
ENST00000245407.7:c.825-4C>T	ENSP00000245407.3:n.825-4C>T
ENST00000415928.5:c.594-4C>T	ENSP00000388838.1:n.594-4C>T
ENST00000435065.6:c.897-4C>T	ENSP00000402760.2:n.897-4C>T
ENST00000437841.6:c.*140-4C>T	ENSP00000400553.1:n.*140-4C>T
ENST00000448810.5:c.173-4C>T
ENST00000461013.5:n.8247-4C>T
NM_001308122.1:c.897-4C>T	NP_001295051.1:n.897-4C>T
NM_003060.3:c.825-4C>T	NP_003051.1:n.825-4C>T
XM_011543590.1:c.207-4C>T	XP_011541892.1:n.207-4C>T
XR_427718.1:n.1185-4C>T
XR_948290.1:n.1166-4C>T
XR_948291.1:n.1179-4C>T
XM_011543590.2:c.207-4C>T	XP_011541892.1:n.207-4C>T
XM_017009778.2:c.297-4C>T	XP_016865267.1:n.297-4C>T
XR_001742215.1:n.1166-4C>T
XR_001742216.1:n.1185-4C>T
XR_427718.2:n.1185-4C>T
XR_948290.2:n.1166-4C>T
XR_948291.2:n.1179-4C>T
NM_003060.4:c.825-4C>T MANE Select	NP_003051.1:n.825-4C>T
NM_001308122.2:c.897-4C>T	NP_001295051.1:n.897-4C>T