Canonical Allele Identifier: CA360807534

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131726435A>T (hg19) ; chr5:g.132390743A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390743A>T , CM000667.2:g.132390743A>T	GRCh38
NC_000005.9:g.131726435A>T , CM000667.1:g.131726435A>T	GRCh37
NC_000005.8:g.131754334A>T	NCBI36
NG_008982.1:g.26035A>T
NG_008982.2:g.26040A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.947A>T	ENSP00000388838.2:p.His316Leu
ENST00000435065.7:c.1178A>T	ENSP00000402760.2:p.His393Leu
ENST00000448810.6:c.1053-33A>T	ENSP00000401860.2:n.1053-33A>T
ENST00000685543.1:n.1247A>T
ENST00000686757.1:c.*270A>T	ENSP00000510721.1:n.*270A>T
ENST00000687740.1:n.3791A>T
ENST00000688151.1:n.2416A>T
ENST00000689271.1:c.953A>T	ENSP00000510797.1:p.His318Leu
ENST00000690900.1:c.*270A>T	ENSP00000510703.1:n.*270A>T
ENST00000692212.1:n.2718A>T
ENST00000692355.1:c.359A>T
ENST00000692413.1:c.1088A>T	ENSP00000509374.1:p.His363Leu
ENST00000692825.1:c.1174A>T	ENSP00000509447.1:n.1174A>T
ENST00000693308.1:c.1154A>T	ENSP00000509770.1:p.His385Leu
ENST00000693763.1:n.2266A>T
ENST00000245407.8:c.1106A>T MANE Select	ENSP00000245407.3:p.His369Leu
ENST00000245407.7:c.1106A>T	ENSP00000245407.3:p.His369Leu
ENST00000435065.6:c.1178A>T	ENSP00000402760.2:p.His393Leu
ENST00000447841.5:c.112-1690A>T
ENST00000448810.5:c.401-33A>T
ENST00000461013.5:n.8528A>T
ENST00000475308.1:n.1784A>T
ENST00000479605.5:n.209A>T
NM_001308122.1:c.1178A>T	NP_001295051.1:p.His393Leu
NM_003060.3:c.1106A>T	NP_003051.1:p.His369Leu
XM_011543590.1:c.488A>T	XP_011541892.1:p.His163Leu
XR_427718.1:n.1466A>T
XR_948290.1:n.1394-1690A>T
XR_948291.1:n.1460A>T
XM_011543590.2:c.488A>T	XP_011541892.1:p.His163Leu
XM_017009778.2:c.578A>T	XP_016865267.1:p.His193Leu
XR_001742215.1:n.1394-33A>T
XR_001742216.1:n.1413-33A>T
XR_427718.2:n.1466A>T
XR_948290.2:n.1394-1690A>T
XR_948291.2:n.1460A>T
NM_003060.4:c.1106A>T MANE Select	NP_003051.1:p.His369Leu
NM_001308122.2:c.1178A>T	NP_001295051.1:p.His393Leu