Canonical Allele Identifier: CA360805567

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131722752A>C (hg19) ; chr5:g.132387060A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132387060A>C , CM000667.2:g.132387060A>C	GRCh38
NC_000005.9:g.131722752A>C , CM000667.1:g.131722752A>C	GRCh37
NC_000005.8:g.131750651A>C	NCBI36
NG_008982.1:g.22352A>C
NG_008982.2:g.22357A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.701A>C	ENSP00000388838.2:p.Gln234Pro
ENST00000435065.7:c.932A>C	ENSP00000402760.2:p.Gln311Pro
ENST00000448810.6:c.860A>C	ENSP00000401860.2:p.Gln287Pro
ENST00000686757.1:c.*24A>C	ENSP00000510721.1:n.*24A>C
ENST00000687740.1:n.3545A>C
ENST00000688151.1:n.2170A>C
ENST00000689271.1:c.707A>C	ENSP00000510797.1:p.Gln236Pro
ENST00000690900.1:c.*24A>C	ENSP00000510703.1:n.*24A>C
ENST00000692212.1:n.804A>C
ENST00000692355.1:c.205-1861A>C
ENST00000692413.1:c.844-2A>C	ENSP00000509374.1:n.844-2A>C
ENST00000692825.1:c.928A>C	ENSP00000509447.1:n.928A>C
ENST00000693308.1:c.908A>C	ENSP00000509770.1:p.Gln303Pro
ENST00000693763.1:n.2020A>C
ENST00000245407.8:c.860A>C MANE Select	ENSP00000245407.3:p.Gln287Pro
ENST00000245407.7:c.860A>C	ENSP00000245407.3:p.Gln287Pro
ENST00000415928.5:c.629A>C	ENSP00000388838.1:p.Gln210Pro
ENST00000435065.6:c.932A>C	ENSP00000402760.2:p.Gln311Pro
ENST00000437841.6:c.*175A>C	ENSP00000400553.1:n.*175A>C
ENST00000448810.5:c.208A>C
ENST00000461013.5:n.8282A>C
NM_001308122.1:c.932A>C	NP_001295051.1:p.Gln311Pro
NM_003060.3:c.860A>C	NP_003051.1:p.Gln287Pro
XM_011543590.1:c.242A>C	XP_011541892.1:p.Gln81Pro
XR_427718.1:n.1220A>C
XR_948290.1:n.1201A>C
XR_948291.1:n.1214A>C
XM_011543590.2:c.242A>C	XP_011541892.1:p.Gln81Pro
XM_017009778.2:c.332A>C	XP_016865267.1:p.Gln111Pro
XR_001742215.1:n.1201A>C
XR_001742216.1:n.1220A>C
XR_427718.2:n.1220A>C
XR_948290.2:n.1201A>C
XR_948291.2:n.1214A>C
NM_003060.4:c.860A>C MANE Select	NP_003051.1:p.Gln287Pro
NM_001308122.2:c.932A>C	NP_001295051.1:p.Gln311Pro