Canonical Allele Identifier: CA3403905

Gene: SLC22A5

Linked Data

• dbSNP Id: rs750276112
• ExAC: 5:131714225 G / C
• gnomAD v2: 5-131714225-G-C
• gnomAD v3: 5-132378533-G-C
• gnomAD v4: 5-132378533-G-C
• MyVariant Identifiers: chr5:g.131714225G>C (hg19) ; chr5:g.132378533G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132378533G>C , CM000667.2:g.132378533G>C	GRCh38
NC_000005.9:g.131714225G>C , CM000667.1:g.131714225G>C	GRCh37
NC_000005.8:g.131742124G>C	NCBI36
NG_008982.1:g.13825G>C
NG_008982.2:g.13830G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.497+52G>C	ENSP00000388838.2:n.497+52G>C
ENST00000435065.7:c.569+52G>C	ENSP00000402760.2:n.569+52G>C
ENST00000448810.6:c.497+52G>C	ENSP00000401860.2:n.497+52G>C
ENST00000686757.1:c.497+52G>C	ENSP00000510721.1:n.497+52G>C
ENST00000687740.1:n.631+52G>C
ENST00000689271.1:c.497+52G>C	ENSP00000510797.1:n.497+52G>C
ENST00000690900.1:c.497+52G>C	ENSP00000510703.1:n.497+52G>C
ENST00000692355.1:c.49+52G>C
ENST00000692413.1:c.497+52G>C	ENSP00000509374.1:n.497+52G>C
ENST00000692825.1:c.565+52G>C	ENSP00000509447.1:n.565+52G>C
ENST00000693308.1:c.497+52G>C	ENSP00000509770.1:n.497+52G>C
ENST00000693763.1:n.631+52G>C
ENST00000245407.8:c.497+52G>C MANE Select	ENSP00000245407.3:n.497+52G>C
ENST00000245407.7:c.497+52G>C	ENSP00000245407.3:n.497+52G>C
ENST00000415928.5:c.266+52G>C	ENSP00000388838.1:n.266+52G>C
ENST00000435065.6:c.569+52G>C	ENSP00000402760.2:n.569+52G>C
ENST00000437841.6:c.394-6795G>C	ENSP00000400553.1:n.394-6795G>C
ENST00000461013.5:n.2306G>C
NM_001308122.1:c.569+52G>C	NP_001295051.1:n.569+52G>C
NM_003060.3:c.497+52G>C	NP_003051.1:n.497+52G>C
XR_427718.1:n.838+52G>C
XR_948290.1:n.838+52G>C
XR_948291.1:n.838+52G>C
XM_011543590.2:c.-135+52G>C	XP_011541892.1:n.-135+52G>C
XM_017009778.2:c.-31-5614G>C	XP_016865267.1:n.-31-5614G>C
XR_001742215.1:n.838+52G>C
XR_001742216.1:n.838+52G>C
XR_427718.2:n.838+52G>C
XR_948290.2:n.838+52G>C
XR_948291.2:n.838+52G>C
NM_003060.4:c.497+52G>C MANE Select	NP_003051.1:n.497+52G>C
NM_001308122.2:c.569+52G>C	NP_001295051.1:n.569+52G>C