Canonical Allele Identifier: CA3404128

Gene: SLC22A5

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132392463T>C , CM000667.2:g.132392463T>C	GRCh38
NC_000005.9:g.131728155T>C , CM000667.1:g.131728155T>C	GRCh37
NC_000005.8:g.131756054T>C	NCBI36
NG_008982.1:g.27755T>C
NG_008982.2:g.27760T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1139T>C	ENSP00000388838.2:p.Met380Thr
ENST00000435065.7:c.1370T>C	ENSP00000402760.2:p.Met457Thr
ENST00000448810.6:c.*150T>C	ENSP00000401860.2:n.*150T>C
ENST00000685543.1:n.1439T>C
ENST00000686757.1:c.*462T>C	ENSP00000510721.1:n.*462T>C
ENST00000687740.1:n.3983T>C
ENST00000688151.1:n.2608T>C
ENST00000689271.1:c.1145T>C	ENSP00000510797.1:p.Met382Thr
ENST00000690900.1:c.*462T>C	ENSP00000510703.1:n.*462T>C
ENST00000692212.1:n.4438T>C
ENST00000692355.1:c.551T>C
ENST00000692413.1:c.1280T>C	ENSP00000509374.1:p.Met427Thr
ENST00000692825.1:c.1366T>C	ENSP00000509447.1:n.1366T>C
ENST00000693308.1:c.1346T>C	ENSP00000509770.1:p.Met449Thr
ENST00000693763.1:n.2458T>C
ENST00000245407.8:c.1298T>C MANE Select	ENSP00000245407.3:p.Met433Thr
ENST00000245407.7:c.1298T>C	ENSP00000245407.3:p.Met433Thr
ENST00000435065.6:c.1370T>C	ENSP00000402760.2:p.Met457Thr
ENST00000447841.5:c.142T>C
ENST00000448810.5:c.560T>C
ENST00000461013.5:n.8720T>C
ENST00000475308.1:n.1976T>C
ENST00000479605.5:n.401T>C
NM_001308122.1:c.1370T>C	NP_001295051.1:p.Met457Thr
NM_003060.3:c.1298T>C	NP_003051.1:p.Met433Thr
XM_011543590.1:c.680T>C	XP_011541892.1:p.Met227Thr
XR_948290.1:n.1424T>C
XM_011543590.2:c.680T>C	XP_011541892.1:p.Met227Thr
XM_017009778.2:c.770T>C	XP_016865267.1:p.Met257Thr
XR_001742215.1:n.1553T>C
XR_001742216.1:n.1572T>C
XR_427718.2:n.1658T>C
XR_948290.2:n.1424T>C
XR_948291.2:n.1652T>C
NM_003060.4:c.1298T>C MANE Select	NP_003051.1:p.Met433Thr
NM_001308122.2:c.1370T>C	NP_001295051.1:p.Met457Thr