Canonical Allele Identifier: CA127212641

Gene: SLC22A5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132392525T>C , CM000667.2:g.132392525T>C	GRCh38
NC_000005.9:g.131728217T>C , CM000667.1:g.131728217T>C	GRCh37
NC_000005.8:g.131756116T>C	NCBI36
NG_008982.1:g.27817T>C
NG_008982.2:g.27822T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_003060.4:c.1360T>C MANE Select	NP_003051.1:p.Tyr454His
ENST00000245407.8:c.1360T>C MANE Select	ENSP00000245407.3:p.Tyr454His
NM_001308122.1:c.1432T>C	NP_001295051.1:p.Tyr478His
NM_001308122.2:c.1432T>C	NP_001295051.1:p.Tyr478His
NM_003060.3:c.1360T>C	NP_003051.1:p.Tyr454His
ENST00000245407.7:c.1360T>C	ENSP00000245407.3:p.Tyr454His
ENST00000415928.6:c.1201T>C	ENSP00000388838.2:p.Tyr401His
ENST00000435065.6:c.1432T>C	ENSP00000402760.2:p.Tyr478His
ENST00000435065.7:c.1432T>C	ENSP00000402760.2:p.Tyr478His
ENST00000447841.5:c.204T>C
ENST00000448810.5:c.622T>C
ENST00000448810.6:c.*212T>C	ENSP00000401860.2:n.*212T>C
ENST00000461013.5:n.8782T>C
ENST00000475308.1:n.2038T>C
ENST00000479605.5:n.463T>C
ENST00000685543.1:n.1501T>C
ENST00000686757.1:c.*524T>C	ENSP00000510721.1:n.*524T>C
ENST00000687740.1:n.4045T>C
ENST00000688151.1:n.2670T>C
ENST00000689271.1:c.1207T>C	ENSP00000510797.1:p.Tyr403His
ENST00000690900.1:c.*524T>C	ENSP00000510703.1:n.*524T>C
ENST00000692212.1:n.4500T>C
ENST00000692355.1:c.613T>C
ENST00000692413.1:c.1342T>C	ENSP00000509374.1:p.Tyr448His
ENST00000692825.1:c.1428T>C	ENSP00000509447.1:n.1428T>C
ENST00000693308.1:c.1408T>C	ENSP00000509770.1:p.Tyr470His
ENST00000693763.1:n.2520T>C
XM_011543590.1:c.742T>C	XP_011541892.1:p.Tyr248His
XM_011543590.2:c.742T>C	XP_011541892.1:p.Tyr248His
XM_017009778.2:c.832T>C	XP_016865267.1:p.Tyr278His
XR_001742215.1:n.1615T>C
XR_001742216.1:n.1634T>C
XR_427718.2:n.1720T>C
XR_948290.1:n.1486T>C
XR_948290.2:n.1486T>C
XR_948291.2:n.1714T>C