Canonical Allele Identifier: CA3403939

Gene: SLC22A5

Linked Data

• dbSNP Id: rs530202724
• ExAC: 5:131720991 G / T
• gnomAD v2: 5-131720991-G-T
• gnomAD v3: 5-132385299-G-T
• gnomAD v4: 5-132385299-G-T
• MyVariant Identifiers: chr5:g.131720991G>T (hg19) ; chr5:g.132385299G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385299G>T , CM000667.2:g.132385299G>T	GRCh38
NC_000005.9:g.131720991G>T , CM000667.1:g.131720991G>T	GRCh37
NC_000005.8:g.131748890G>T	NCBI36
NG_008982.1:g.20591G>T
NG_008982.2:g.20596G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.665+985G>T	ENSP00000388838.2:n.665+985G>T
ENST00000435065.7:c.725-29G>T	ENSP00000402760.2:n.725-29G>T
ENST00000448810.6:c.653-29G>T	ENSP00000401860.2:n.653-29G>T
ENST00000686757.1:c.672-29G>T	ENSP00000510721.1:n.672-29G>T
ENST00000687740.1:n.1784G>T
ENST00000688151.1:n.1845-29G>T
ENST00000689271.1:c.671+979G>T	ENSP00000510797.1:n.671+979G>T
ENST00000690900.1:c.672-77G>T	ENSP00000510703.1:n.672-77G>T
ENST00000692212.1:n.450G>T
ENST00000692355.1:c.204+998G>T
ENST00000692413.1:c.672-29G>T	ENSP00000509374.1:n.672-29G>T
ENST00000692825.1:c.721-29G>T	ENSP00000509447.1:n.721-29G>T
ENST00000693308.1:c.666-29G>T	ENSP00000509770.1:n.666-29G>T
ENST00000693763.1:n.1784G>T
ENST00000245407.8:c.653-29G>T MANE Select	ENSP00000245407.3:n.653-29G>T
ENST00000245407.7:c.653-29G>T	ENSP00000245407.3:n.653-29G>T
ENST00000415928.5:c.422-29G>T	ENSP00000388838.1:n.422-29G>T
ENST00000435065.6:c.725-29G>T	ENSP00000402760.2:n.725-29G>T
ENST00000437841.6:c.394-29G>T	ENSP00000400553.1:n.394-29G>T
ENST00000461013.5:n.8075-29G>T
NM_001308122.1:c.725-29G>T	NP_001295051.1:n.725-29G>T
NM_003060.3:c.653-29G>T	NP_003051.1:n.653-29G>T
XM_011543590.1:c.35-29G>T	XP_011541892.1:n.35-29G>T
XR_427718.1:n.1013-29G>T
XR_948290.1:n.994-29G>T
XR_948291.1:n.1007-29G>T
XM_011543590.2:c.35-29G>T	XP_011541892.1:n.35-29G>T
XM_017009778.2:c.125-29G>T	XP_016865267.1:n.125-29G>T
XR_001742215.1:n.994-29G>T
XR_001742216.1:n.1013-29G>T
XR_427718.2:n.1013-29G>T
XR_948290.2:n.994-29G>T
XR_948291.2:n.1007-29G>T
NM_003060.4:c.653-29G>T MANE Select	NP_003051.1:n.653-29G>T
NM_001308122.2:c.725-29G>T	NP_001295051.1:n.725-29G>T