Canonical Allele Identifier: CA562769627

Gene: SLC22A5

Linked Data

• dbSNP Id: rs1472010953
• gnomAD v2: 5-131717060-G-T
• gnomAD v3: 5-132381368-G-T
• gnomAD v4: 5-132381368-G-T
• MyVariant Identifiers: chr5:g.131717060G>T (hg19) ; chr5:g.132381368G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132381368G>T , CM000667.2:g.132381368G>T	GRCh38
NC_000005.9:g.131717060G>T , CM000667.1:g.131717060G>T	GRCh37
NC_000005.8:g.131744959G>T	NCBI36
NG_008982.1:g.16660G>T
NG_008982.2:g.16665G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.498-2779G>T	ENSP00000388838.2:n.498-2779G>T
ENST00000435065.7:c.570-2779G>T	ENSP00000402760.2:n.570-2779G>T
ENST00000448810.6:c.498-2779G>T	ENSP00000401860.2:n.498-2779G>T
ENST00000686757.1:c.498-2779G>T	ENSP00000510721.1:n.498-2779G>T
ENST00000687740.1:n.632-2779G>T
ENST00000689271.1:c.498-2779G>T	ENSP00000510797.1:n.498-2779G>T
ENST00000690900.1:c.498-2779G>T	ENSP00000510703.1:n.498-2779G>T
ENST00000692355.1:c.50-2779G>T
ENST00000692413.1:c.498-2779G>T	ENSP00000509374.1:n.498-2779G>T
ENST00000692825.1:c.566-2779G>T	ENSP00000509447.1:n.566-2779G>T
ENST00000693308.1:c.498-2779G>T	ENSP00000509770.1:n.498-2779G>T
ENST00000693763.1:n.632-2779G>T
ENST00000245407.8:c.498-2779G>T MANE Select	ENSP00000245407.3:n.498-2779G>T
ENST00000245407.7:c.498-2779G>T	ENSP00000245407.3:n.498-2779G>T
ENST00000415928.5:c.267-2779G>T	ENSP00000388838.1:n.267-2779G>T
ENST00000435065.6:c.570-2779G>T	ENSP00000402760.2:n.570-2779G>T
ENST00000437841.6:c.394-3960G>T	ENSP00000400553.1:n.394-3960G>T
ENST00000461013.5:n.5141G>T
NM_001308122.1:c.570-2779G>T	NP_001295051.1:n.570-2779G>T
NM_003060.3:c.498-2779G>T	NP_003051.1:n.498-2779G>T
XR_427718.1:n.839-2779G>T
XR_948290.1:n.839-2779G>T
XR_948291.1:n.839-2779G>T
XM_011543590.2:c.-134-2779G>T	XP_011541892.1:n.-134-2779G>T
XM_017009778.2:c.-31-2779G>T	XP_016865267.1:n.-31-2779G>T
XR_001742215.1:n.839-2779G>T
XR_001742216.1:n.839-2779G>T
XR_427718.2:n.839-2779G>T
XR_948290.2:n.839-2779G>T
XR_948291.2:n.839-2779G>T
NM_003060.4:c.498-2779G>T MANE Select	NP_003051.1:n.498-2779G>T
NM_001308122.2:c.570-2779G>T	NP_001295051.1:n.570-2779G>T