Canonical Allele Identifier: CA12063689

Gene: SLC22A5

Linked Data

• ClinVar Variation Id: 670572
• ClinVar RCV Id: RCV000829727
• dbSNP Id: rs274567
• gnomAD v2: 5-131714409-C-T
• gnomAD v3: 5-132378717-C-T
• gnomAD v4: 5-132378717-C-T
• MyVariant Identifiers: chr5:g.131714409C>T (hg19) ; chr5:g.132378717C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132378717C>T , CM000667.2:g.132378717C>T	GRCh38
NC_000005.9:g.131714409C>T , CM000667.1:g.131714409C>T	GRCh37
NC_000005.8:g.131742308C>T	NCBI36
NG_008982.1:g.14009C>T
NG_008982.2:g.14014C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.497+236C>T	ENSP00000388838.2:n.497+236C>T
ENST00000435065.7:c.569+236C>T	ENSP00000402760.2:n.569+236C>T
ENST00000448810.6:c.497+236C>T	ENSP00000401860.2:n.497+236C>T
ENST00000686757.1:c.497+236C>T	ENSP00000510721.1:n.497+236C>T
ENST00000687740.1:n.631+236C>T
ENST00000689271.1:c.497+236C>T	ENSP00000510797.1:n.497+236C>T
ENST00000690900.1:c.497+236C>T	ENSP00000510703.1:n.497+236C>T
ENST00000692355.1:c.49+236C>T
ENST00000692413.1:c.497+236C>T	ENSP00000509374.1:n.497+236C>T
ENST00000692825.1:c.565+236C>T	ENSP00000509447.1:n.565+236C>T
ENST00000693308.1:c.497+236C>T	ENSP00000509770.1:n.497+236C>T
ENST00000693763.1:n.631+236C>T
ENST00000245407.8:c.497+236C>T MANE Select	ENSP00000245407.3:n.497+236C>T
ENST00000245407.7:c.497+236C>T	ENSP00000245407.3:n.497+236C>T
ENST00000415928.5:c.266+236C>T	ENSP00000388838.1:n.266+236C>T
ENST00000435065.6:c.569+236C>T	ENSP00000402760.2:n.569+236C>T
ENST00000437841.6:c.394-6611C>T	ENSP00000400553.1:n.394-6611C>T
ENST00000461013.5:n.2490C>T
NM_001308122.1:c.569+236C>T	NP_001295051.1:n.569+236C>T
NM_003060.3:c.497+236C>T	NP_003051.1:n.497+236C>T
XR_427718.1:n.838+236C>T
XR_948290.1:n.838+236C>T
XR_948291.1:n.838+236C>T
XM_011543590.2:c.-135+236C>T	XP_011541892.1:n.-135+236C>T
XM_017009778.2:c.-31-5430C>T	XP_016865267.1:n.-31-5430C>T
XR_001742215.1:n.838+236C>T
XR_001742216.1:n.838+236C>T
XR_427718.2:n.838+236C>T
XR_948290.2:n.838+236C>T
XR_948291.2:n.838+236C>T
NM_003060.4:c.497+236C>T MANE Select	NP_003051.1:n.497+236C>T
NM_001308122.2:c.569+236C>T	NP_001295051.1:n.569+236C>T