Canonical Allele Identifier: CA360809151

Gene: SLC22A5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132392564T>C , CM000667.2:g.132392564T>C	GRCh38
NC_000005.9:g.131728256T>C , CM000667.1:g.131728256T>C	GRCh37
NC_000005.8:g.131756155T>C	NCBI36
NG_008982.1:g.27856T>C
NG_008982.2:g.27861T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_003060.4:c.1399T>C MANE Select	NP_003051.1:p.Ser467Pro
ENST00000245407.8:c.1399T>C MANE Select	ENSP00000245407.3:p.Ser467Pro
NM_001308122.1:c.1471T>C	NP_001295051.1:p.Ser491Pro
NM_001308122.2:c.1471T>C	NP_001295051.1:p.Ser491Pro
NM_003060.3:c.1399T>C	NP_003051.1:p.Ser467Pro
ENST00000245407.7:c.1399T>C	ENSP00000245407.3:p.Ser467Pro
ENST00000415928.6:c.1240T>C	ENSP00000388838.2:p.Ser414Pro
ENST00000435065.6:c.1471T>C	ENSP00000402760.2:p.Ser491Pro
ENST00000435065.7:c.1471T>C	ENSP00000402760.2:p.Ser491Pro
ENST00000447841.5:c.243T>C
ENST00000448810.5:c.661T>C
ENST00000448810.6:c.*251T>C	ENSP00000401860.2:n.*251T>C
ENST00000461013.5:n.8821T>C
ENST00000475308.1:n.2077T>C
ENST00000479605.5:n.502T>C
ENST00000685543.1:n.1540T>C
ENST00000686757.1:c.*563T>C	ENSP00000510721.1:n.*563T>C
ENST00000687740.1:n.4084T>C
ENST00000688151.1:n.2709T>C
ENST00000689271.1:c.1246T>C	ENSP00000510797.1:p.Ser416Pro
ENST00000690900.1:c.*563T>C	ENSP00000510703.1:n.*563T>C
ENST00000692212.1:n.4539T>C
ENST00000692355.1:c.652T>C
ENST00000692413.1:c.1381T>C	ENSP00000509374.1:p.Ser461Pro
ENST00000692825.1:c.1467T>C	ENSP00000509447.1:n.1467T>C
ENST00000693308.1:c.1447T>C	ENSP00000509770.1:p.Ser483Pro
ENST00000693763.1:n.2559T>C
XM_011543590.1:c.781T>C	XP_011541892.1:p.Ser261Pro
XM_011543590.2:c.781T>C	XP_011541892.1:p.Ser261Pro
XM_017009778.2:c.871T>C	XP_016865267.1:p.Ser291Pro
XR_001742215.1:n.1654T>C
XR_001742216.1:n.1673T>C
XR_427718.2:n.1759T>C
XR_948290.1:n.1525T>C
XR_948290.2:n.1525T>C
XR_948291.2:n.1753T>C