Canonical Allele Identifier: CA127211956

Gene: SLC22A5

Linked Data

• dbSNP Id: rs1023280890
• gnomAD v3: 5-132390319-C-T
• gnomAD v4: 5-132390319-C-T
• MyVariant Identifiers: chr5:g.131726011C>T (hg19) ; chr5:g.132390319C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390319C>T , CM000667.2:g.132390319C>T	GRCh38
NC_000005.9:g.131726011C>T , CM000667.1:g.131726011C>T	GRCh37
NC_000005.8:g.131753910C>T	NCBI36
NG_008982.1:g.25611C>T
NG_008982.2:g.25616C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.894-371C>T	ENSP00000388838.2:n.894-371C>T
ENST00000435065.7:c.1125-371C>T	ENSP00000402760.2:n.1125-371C>T
ENST00000448810.6:c.1053-457C>T	ENSP00000401860.2:n.1053-457C>T
ENST00000685543.1:n.1194-371C>T
ENST00000686757.1:c.*217-371C>T	ENSP00000510721.1:n.*217-371C>T
ENST00000687740.1:n.3738-371C>T
ENST00000688151.1:n.2363-371C>T
ENST00000689271.1:c.900-371C>T	ENSP00000510797.1:n.900-371C>T
ENST00000690900.1:c.*217-371C>T	ENSP00000510703.1:n.*217-371C>T
ENST00000692212.1:n.2294C>T
ENST00000692355.1:c.306-371C>T
ENST00000692413.1:c.1035-371C>T	ENSP00000509374.1:n.1035-371C>T
ENST00000692825.1:c.1121-371C>T	ENSP00000509447.1:n.1121-371C>T
ENST00000693308.1:c.1101-371C>T	ENSP00000509770.1:n.1101-371C>T
ENST00000693763.1:n.2213-371C>T
ENST00000245407.8:c.1053-371C>T MANE Select	ENSP00000245407.3:n.1053-371C>T
ENST00000245407.7:c.1053-371C>T	ENSP00000245407.3:n.1053-371C>T
ENST00000435065.6:c.1125-371C>T	ENSP00000402760.2:n.1125-371C>T
ENST00000447841.5:c.111+1298C>T
ENST00000448810.5:c.401-457C>T
ENST00000461013.5:n.8475-371C>T
ENST00000475308.1:n.1360C>T
ENST00000479605.5:n.156-371C>T
NM_001308122.1:c.1125-371C>T	NP_001295051.1:n.1125-371C>T
NM_003060.3:c.1053-371C>T	NP_003051.1:n.1053-371C>T
XM_011543590.1:c.435-371C>T	XP_011541892.1:n.435-371C>T
XR_427718.1:n.1413-371C>T
XR_948290.1:n.1393+1298C>T
XR_948291.1:n.1407-371C>T
XM_011543590.2:c.435-371C>T	XP_011541892.1:n.435-371C>T
XM_017009778.2:c.525-371C>T	XP_016865267.1:n.525-371C>T
XR_001742215.1:n.1394-457C>T
XR_001742216.1:n.1413-457C>T
XR_427718.2:n.1413-371C>T
XR_948290.2:n.1393+1298C>T
XR_948291.2:n.1407-371C>T
NM_003060.4:c.1053-371C>T MANE Select	NP_003051.1:n.1053-371C>T
NM_001308122.2:c.1125-371C>T	NP_001295051.1:n.1125-371C>T