Canonical Allele Identifier: CA360810145

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131729885A>C (hg19) ; chr5:g.132394193A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132394193A>C , CM000667.2:g.132394193A>C	GRCh38
NC_000005.9:g.131729885A>C , CM000667.1:g.131729885A>C	GRCh37
NC_000005.8:g.131757784A>C	NCBI36
NG_008982.1:g.29485A>C
NG_008982.2:g.29490A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.*4A>C	ENSP00000388838.2:n.*4A>C
ENST00000435065.7:c.1667A>C	ENSP00000402760.2:p.His556Pro
ENST00000448810.6:c.*447A>C	ENSP00000401860.2:n.*447A>C
ENST00000685543.1:n.1736A>C
ENST00000686757.1:c.*759A>C	ENSP00000510721.1:n.*759A>C
ENST00000686868.1:n.587A>C
ENST00000687740.1:n.4280A>C
ENST00000688151.1:n.2905A>C
ENST00000689271.1:c.1442A>C	ENSP00000510797.1:p.His481Pro
ENST00000690900.1:c.*759A>C	ENSP00000510703.1:n.*759A>C
ENST00000692212.1:n.4735A>C
ENST00000692355.1:c.848A>C
ENST00000692413.1:c.1577A>C	ENSP00000509374.1:p.His526Pro
ENST00000692825.1:c.1663A>C	ENSP00000509447.1:n.1663A>C
ENST00000693308.1:c.1643A>C	ENSP00000509770.1:p.His548Pro
ENST00000693763.1:n.2755A>C
ENST00000245407.8:c.1595A>C MANE Select	ENSP00000245407.3:p.His532Pro
ENST00000245407.7:c.1595A>C	ENSP00000245407.3:p.His532Pro
ENST00000435065.6:c.1667A>C	ENSP00000402760.2:p.His556Pro
ENST00000447841.5:c.439A>C
ENST00000461013.5:n.9017A>C
ENST00000475308.1:n.2273A>C
NM_001308122.1:c.1667A>C	NP_001295051.1:p.His556Pro
NM_003060.3:c.1595A>C	NP_003051.1:p.His532Pro
XM_011543590.1:c.977A>C	XP_011541892.1:p.His326Pro
XR_948290.1:n.1721A>C
XM_011543590.2:c.977A>C	XP_011541892.1:p.His326Pro
XM_017009778.2:c.1067A>C	XP_016865267.1:p.His356Pro
XR_001742215.1:n.1850A>C
XR_001742216.1:n.1869A>C
XR_427718.2:n.1955A>C
XR_948290.2:n.1721A>C
XR_948291.2:n.1949A>C
NM_003060.4:c.1595A>C MANE Select	NP_003051.1:p.His532Pro
NM_001308122.2:c.1667A>C	NP_001295051.1:p.His556Pro