Canonical Allele Identifier: CA2578402172

Gene: SLC22A5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132392391G>T , CM000667.2:g.132392391G>T	GRCh38
NC_000005.9:g.131728083G>T , CM000667.1:g.131728083G>T	GRCh37
NC_000005.8:g.131755982G>T	NCBI36
NG_008982.1:g.27683G>T
NG_008982.2:g.27688G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.1109-42G>T	ENSP00000388838.2:n.1109-42G>T
ENST00000435065.7:c.1340-42G>T	ENSP00000402760.2:n.1340-42G>T
ENST00000448810.6:c.*120-42G>T	ENSP00000401860.2:n.*120-42G>T
ENST00000685543.1:n.1409-42G>T
ENST00000686757.1:c.*432-42G>T	ENSP00000510721.1:n.*432-42G>T
ENST00000687740.1:n.3953-42G>T
ENST00000688151.1:n.2578-42G>T
ENST00000689271.1:c.1115-42G>T	ENSP00000510797.1:n.1115-42G>T
ENST00000690900.1:c.*432-42G>T	ENSP00000510703.1:n.*432-42G>T
ENST00000692212.1:n.4366G>T
ENST00000692355.1:c.521-42G>T
ENST00000692413.1:c.1250-42G>T	ENSP00000509374.1:n.1250-42G>T
ENST00000692825.1:c.1336-42G>T	ENSP00000509447.1:n.1336-42G>T
ENST00000693308.1:c.1316-42G>T	ENSP00000509770.1:n.1316-42G>T
ENST00000693763.1:n.2428-42G>T
ENST00000245407.8:c.1268-42G>T MANE Select	ENSP00000245407.3:n.1268-42G>T
ENST00000245407.7:c.1268-42G>T	ENSP00000245407.3:n.1268-42G>T
ENST00000435065.6:c.1340-42G>T	ENSP00000402760.2:n.1340-42G>T
ENST00000447841.5:c.112-42G>T
ENST00000448810.5:c.530-42G>T
ENST00000461013.5:n.8690-42G>T
ENST00000475308.1:n.1946-42G>T
ENST00000479605.5:n.371-42G>T
NM_001308122.1:c.1340-42G>T	NP_001295051.1:n.1340-42G>T
NM_003060.3:c.1268-42G>T	NP_003051.1:n.1268-42G>T
XM_011543590.1:c.650-42G>T	XP_011541892.1:n.650-42G>T
XR_427718.1:n.1628-42G>T
XR_948290.1:n.1394-42G>T
XR_948291.1:n.1622-42G>T
XM_011543590.2:c.650-42G>T	XP_011541892.1:n.650-42G>T
XM_017009778.2:c.740-42G>T	XP_016865267.1:n.740-42G>T
XR_001742215.1:n.1523-42G>T
XR_001742216.1:n.1542-42G>T
XR_427718.2:n.1628-42G>T
XR_948290.2:n.1394-42G>T
XR_948291.2:n.1622-42G>T
NM_003060.4:c.1268-42G>T MANE Select	NP_003051.1:n.1268-42G>T
NM_001308122.2:c.1340-42G>T	NP_001295051.1:n.1340-42G>T