Canonical Allele Identifier: CA312943

Gene: SLC22A5

Linked Data

• dbSNP Id: rs188698686
• MyVariant Identifiers: chr5:g.131721061A>C (hg19) ; chr5:g.132385369A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385369A>C , CM000667.2:g.132385369A>C	GRCh38
NC_000005.9:g.131721061A>C , CM000667.1:g.131721061A>C	GRCh37
NC_000005.8:g.131748960A>C	NCBI36
NG_008982.1:g.20661A>C
NG_008982.2:g.20666A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.665+1055A>C	ENSP00000388838.2:n.665+1055A>C
ENST00000435065.7:c.766A>C	ENSP00000402760.2:p.Thr256Pro
ENST00000448810.6:c.694A>C	ENSP00000401860.2:p.Thr232Pro
ENST00000686757.1:c.713A>C	ENSP00000510721.1:p.Tyr238Ser
ENST00000687740.1:n.1854A>C
ENST00000688151.1:n.1886A>C
ENST00000689271.1:c.671+1049A>C	ENSP00000510797.1:n.671+1049A>C
ENST00000690900.1:c.672-7A>C	ENSP00000510703.1:n.672-7A>C
ENST00000692212.1:n.520A>C
ENST00000692355.1:c.204+1068A>C
ENST00000692413.1:c.713A>C	ENSP00000509374.1:p.Tyr238Ser
ENST00000692825.1:c.762A>C	ENSP00000509447.1:n.762A>C
ENST00000693308.1:c.707A>C	ENSP00000509770.1:p.Tyr236Ser
ENST00000693763.1:n.1854A>C
ENST00000245407.8:c.694A>C MANE Select	ENSP00000245407.3:p.Thr232Pro
ENST00000245407.7:c.694A>C	ENSP00000245407.3:p.Thr232Pro
ENST00000415928.5:c.463A>C	ENSP00000388838.1:p.Thr155Pro
ENST00000435065.6:c.766A>C	ENSP00000402760.2:p.Thr256Pro
ENST00000437841.6:c.*9A>C	ENSP00000400553.1:n.*9A>C
ENST00000448810.5:c.42A>C
ENST00000461013.5:n.8116A>C
NM_001308122.1:c.766A>C	NP_001295051.1:p.Thr256Pro
NM_003060.3:c.694A>C	NP_003051.1:p.Thr232Pro
XM_011543590.1:c.76A>C	XP_011541892.1:p.Thr26Pro
XR_427718.1:n.1054A>C
XR_948290.1:n.1035A>C
XR_948291.1:n.1048A>C
XM_011543590.2:c.76A>C	XP_011541892.1:p.Thr26Pro
XM_017009778.2:c.166A>C	XP_016865267.1:p.Thr56Pro
XR_001742215.1:n.1035A>C
XR_001742216.1:n.1054A>C
XR_427718.2:n.1054A>C
XR_948290.2:n.1035A>C
XR_948291.2:n.1048A>C
NM_003060.4:c.694A>C MANE Select	NP_003051.1:p.Thr232Pro
NM_001308122.2:c.766A>C	NP_001295051.1:p.Thr256Pro