Canonical Allele Identifier: CA2841843283

Gene: SLC22A5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132393852G>T , CM000667.2:g.132393852G>T	GRCh38
NC_000005.9:g.131729544G>T , CM000667.1:g.131729544G>T	GRCh37
NC_000005.8:g.131757443G>T	NCBI36
NG_008982.1:g.29144G>T
NG_008982.2:g.29149G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-333G>T	ENSP00000388838.2:n.1292-333G>T
ENST00000435065.7:c.1658+41G>T	ENSP00000402760.2:n.1658+41G>T
ENST00000448810.6:c.*438+41G>T	ENSP00000401860.2:n.*438+41G>T
ENST00000685543.1:n.1727+41G>T
ENST00000686757.1:c.*750+41G>T	ENSP00000510721.1:n.*750+41G>T
ENST00000686868.1:n.578+41G>T
ENST00000687740.1:n.4271+41G>T
ENST00000688151.1:n.2896+41G>T
ENST00000689271.1:c.1433+41G>T	ENSP00000510797.1:n.1433+41G>T
ENST00000690900.1:c.*750+41G>T	ENSP00000510703.1:n.*750+41G>T
ENST00000692212.1:n.4726+41G>T
ENST00000692355.1:c.839+41G>T
ENST00000692413.1:c.1568+41G>T	ENSP00000509374.1:n.1568+41G>T
ENST00000692825.1:c.1654+41G>T	ENSP00000509447.1:n.1654+41G>T
ENST00000693308.1:c.1634+41G>T	ENSP00000509770.1:n.1634+41G>T
ENST00000693763.1:n.2746+41G>T
ENST00000245407.8:c.1586+41G>T MANE Select	ENSP00000245407.3:n.1586+41G>T
ENST00000245407.7:c.1586+41G>T	ENSP00000245407.3:n.1586+41G>T
ENST00000435065.6:c.1658+41G>T	ENSP00000402760.2:n.1658+41G>T
ENST00000447841.5:c.430+41G>T
ENST00000461013.5:n.9008+41G>T
ENST00000475308.1:n.2264+41G>T
NM_001308122.1:c.1658+41G>T	NP_001295051.1:n.1658+41G>T
NM_003060.3:c.1586+41G>T	NP_003051.1:n.1586+41G>T
XM_011543590.1:c.968+41G>T	XP_011541892.1:n.968+41G>T
XR_948290.1:n.1712+41G>T
XM_011543590.2:c.968+41G>T	XP_011541892.1:n.968+41G>T
XM_017009778.2:c.1058+41G>T	XP_016865267.1:n.1058+41G>T
XR_001742215.1:n.1841+41G>T
XR_001742216.1:n.1860+41G>T
XR_427718.2:n.1946+41G>T
XR_948290.2:n.1712+41G>T
XR_948291.2:n.1940+41G>T
NM_003060.4:c.1586+41G>T MANE Select	NP_003051.1:n.1586+41G>T
NM_001308122.2:c.1658+41G>T	NP_001295051.1:n.1658+41G>T