Canonical Allele Identifier: CA360808415

Gene: SLC22A5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132392464G>C , CM000667.2:g.132392464G>C	GRCh38
NC_000005.9:g.131728156G>C , CM000667.1:g.131728156G>C	GRCh37
NC_000005.8:g.131756055G>C	NCBI36
NG_008982.1:g.27756G>C
NG_008982.2:g.27761G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_003060.4:c.1299G>C MANE Select	NP_003051.1:p.Met433Ile
ENST00000245407.8:c.1299G>C MANE Select	ENSP00000245407.3:p.Met433Ile
NM_001308122.1:c.1371G>C	NP_001295051.1:p.Met457Ile
NM_001308122.2:c.1371G>C	NP_001295051.1:p.Met457Ile
NM_003060.3:c.1299G>C	NP_003051.1:p.Met433Ile
ENST00000245407.7:c.1299G>C	ENSP00000245407.3:p.Met433Ile
ENST00000415928.6:c.1140G>C	ENSP00000388838.2:p.Met380Ile
ENST00000435065.6:c.1371G>C	ENSP00000402760.2:p.Met457Ile
ENST00000435065.7:c.1371G>C	ENSP00000402760.2:p.Met457Ile
ENST00000447841.5:c.143G>C
ENST00000448810.5:c.561G>C
ENST00000448810.6:c.*151G>C	ENSP00000401860.2:n.*151G>C
ENST00000461013.5:n.8721G>C
ENST00000475308.1:n.1977G>C
ENST00000479605.5:n.402G>C
ENST00000685543.1:n.1440G>C
ENST00000686757.1:c.*463G>C	ENSP00000510721.1:n.*463G>C
ENST00000687740.1:n.3984G>C
ENST00000688151.1:n.2609G>C
ENST00000689271.1:c.1146G>C	ENSP00000510797.1:p.Met382Ile
ENST00000690900.1:c.*463G>C	ENSP00000510703.1:n.*463G>C
ENST00000692212.1:n.4439G>C
ENST00000692355.1:c.552G>C
ENST00000692413.1:c.1281G>C	ENSP00000509374.1:p.Met427Ile
ENST00000692825.1:c.1367G>C	ENSP00000509447.1:n.1367G>C
ENST00000693308.1:c.1347G>C	ENSP00000509770.1:p.Met449Ile
ENST00000693763.1:n.2459G>C
XM_011543590.1:c.681G>C	XP_011541892.1:p.Met227Ile
XM_011543590.2:c.681G>C	XP_011541892.1:p.Met227Ile
XM_017009778.2:c.771G>C	XP_016865267.1:p.Met257Ile
XR_001742215.1:n.1554G>C
XR_001742216.1:n.1573G>C
XR_427718.2:n.1659G>C
XR_948290.1:n.1425G>C
XR_948290.2:n.1425G>C
XR_948291.2:n.1653G>C