Canonical Allele Identifier: CA360807843

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131726583G>T (hg19) ; chr5:g.132390891G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390891G>T , CM000667.2:g.132390891G>T	GRCh38
NC_000005.9:g.131726583G>T , CM000667.1:g.131726583G>T	GRCh37
NC_000005.8:g.131754482G>T	NCBI36
NG_008982.1:g.26183G>T
NG_008982.2:g.26188G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1095G>T	ENSP00000388838.2:p.Gln365His
ENST00000435065.7:c.1326G>T	ENSP00000402760.2:p.Gln442His
ENST00000448810.6:c.*106G>T	ENSP00000401860.2:n.*106G>T
ENST00000685543.1:n.1395G>T
ENST00000686757.1:c.*418G>T	ENSP00000510721.1:n.*418G>T
ENST00000687740.1:n.3939G>T
ENST00000688151.1:n.2564G>T
ENST00000689271.1:c.1101G>T	ENSP00000510797.1:p.Gln367His
ENST00000690900.1:c.*418G>T	ENSP00000510703.1:n.*418G>T
ENST00000692212.1:n.2866G>T
ENST00000692355.1:c.507G>T
ENST00000692413.1:c.1236G>T	ENSP00000509374.1:p.Gln412His
ENST00000692825.1:c.1322G>T	ENSP00000509447.1:n.1322G>T
ENST00000693308.1:c.1302G>T	ENSP00000509770.1:p.Gln434His
ENST00000693763.1:n.2414G>T
ENST00000245407.8:c.1254G>T MANE Select	ENSP00000245407.3:p.Gln418His
ENST00000245407.7:c.1254G>T	ENSP00000245407.3:p.Gln418His
ENST00000435065.6:c.1326G>T	ENSP00000402760.2:p.Gln442His
ENST00000447841.5:c.112-1542G>T
ENST00000448810.5:c.516G>T
ENST00000461013.5:n.8676G>T
ENST00000475308.1:n.1932G>T
ENST00000479605.5:n.357G>T
NM_001308122.1:c.1326G>T	NP_001295051.1:p.Gln442His
NM_003060.3:c.1254G>T	NP_003051.1:p.Gln418His
XM_011543590.1:c.636G>T	XP_011541892.1:p.Gln212His
XR_427718.1:n.1614G>T
XR_948290.1:n.1394-1542G>T
XR_948291.1:n.1608G>T
XM_011543590.2:c.636G>T	XP_011541892.1:p.Gln212His
XM_017009778.2:c.726G>T	XP_016865267.1:p.Gln242His
XR_001742215.1:n.1509G>T
XR_001742216.1:n.1528G>T
XR_427718.2:n.1614G>T
XR_948290.2:n.1394-1542G>T
XR_948291.2:n.1608G>T
NM_003060.4:c.1254G>T MANE Select	NP_003051.1:p.Gln418His
NM_001308122.2:c.1326G>T	NP_001295051.1:p.Gln442His