Canonical Allele Identifier: CA562772208

Gene: SLC22A5

Linked Data

• dbSNP Id: rs1176660001
• gnomAD v2: 5-131726378-T-C
• gnomAD v4: 5-132390686-T-C
• MyVariant Identifiers: chr5:g.131726378T>C (hg19) ; chr5:g.132390686T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390686T>C , CM000667.2:g.132390686T>C	GRCh38
NC_000005.9:g.131726378T>C , CM000667.1:g.131726378T>C	GRCh37
NC_000005.8:g.131754277T>C	NCBI36
NG_008982.1:g.25978T>C
NG_008982.2:g.25983T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.894-4T>C	ENSP00000388838.2:n.894-4T>C
ENST00000435065.7:c.1125-4T>C	ENSP00000402760.2:n.1125-4T>C
ENST00000448810.6:c.1053-90T>C	ENSP00000401860.2:n.1053-90T>C
ENST00000685543.1:n.1194-4T>C
ENST00000686757.1:c.*217-4T>C	ENSP00000510721.1:n.*217-4T>C
ENST00000687740.1:n.3738-4T>C
ENST00000688151.1:n.2363-4T>C
ENST00000689271.1:c.900-4T>C	ENSP00000510797.1:n.900-4T>C
ENST00000690900.1:c.*217-4T>C	ENSP00000510703.1:n.*217-4T>C
ENST00000692212.1:n.2661T>C
ENST00000692355.1:c.306-4T>C
ENST00000692413.1:c.1035-4T>C	ENSP00000509374.1:n.1035-4T>C
ENST00000692825.1:c.1121-4T>C	ENSP00000509447.1:n.1121-4T>C
ENST00000693308.1:c.1101-4T>C	ENSP00000509770.1:n.1101-4T>C
ENST00000693763.1:n.2213-4T>C
ENST00000245407.8:c.1053-4T>C MANE Select	ENSP00000245407.3:n.1053-4T>C
ENST00000245407.7:c.1053-4T>C	ENSP00000245407.3:n.1053-4T>C
ENST00000435065.6:c.1125-4T>C	ENSP00000402760.2:n.1125-4T>C
ENST00000447841.5:c.111+1665T>C
ENST00000448810.5:c.401-90T>C
ENST00000461013.5:n.8475-4T>C
ENST00000475308.1:n.1727T>C
ENST00000479605.5:n.156-4T>C
NM_001308122.1:c.1125-4T>C	NP_001295051.1:n.1125-4T>C
NM_003060.3:c.1053-4T>C	NP_003051.1:n.1053-4T>C
XM_011543590.1:c.435-4T>C	XP_011541892.1:n.435-4T>C
XR_427718.1:n.1413-4T>C
XR_948290.1:n.1393+1665T>C
XR_948291.1:n.1407-4T>C
XM_011543590.2:c.435-4T>C	XP_011541892.1:n.435-4T>C
XM_017009778.2:c.525-4T>C	XP_016865267.1:n.525-4T>C
XR_001742215.1:n.1394-90T>C
XR_001742216.1:n.1413-90T>C
XR_427718.2:n.1413-4T>C
XR_948290.2:n.1393+1665T>C
XR_948291.2:n.1407-4T>C
NM_003060.4:c.1053-4T>C MANE Select	NP_003051.1:n.1053-4T>C
NM_001308122.2:c.1125-4T>C	NP_001295051.1:n.1125-4T>C