Canonical Allele Identifier: CA360807568

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131726450T>C (hg19) ; chr5:g.132390758T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390758T>C , CM000667.2:g.132390758T>C	GRCh38
NC_000005.9:g.131726450T>C , CM000667.1:g.131726450T>C	GRCh37
NC_000005.8:g.131754349T>C	NCBI36
NG_008982.1:g.26050T>C
NG_008982.2:g.26055T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.962T>C	ENSP00000388838.2:p.Val321Ala
ENST00000435065.7:c.1193T>C	ENSP00000402760.2:p.Val398Ala
ENST00000448810.6:c.1053-18T>C	ENSP00000401860.2:n.1053-18T>C
ENST00000685543.1:n.1262T>C
ENST00000686757.1:c.*285T>C	ENSP00000510721.1:n.*285T>C
ENST00000687740.1:n.3806T>C
ENST00000688151.1:n.2431T>C
ENST00000689271.1:c.968T>C	ENSP00000510797.1:p.Val323Ala
ENST00000690900.1:c.*285T>C	ENSP00000510703.1:n.*285T>C
ENST00000692212.1:n.2733T>C
ENST00000692355.1:c.374T>C
ENST00000692413.1:c.1103T>C	ENSP00000509374.1:p.Val368Ala
ENST00000692825.1:c.1189T>C	ENSP00000509447.1:n.1189T>C
ENST00000693308.1:c.1169T>C	ENSP00000509770.1:p.Val390Ala
ENST00000693763.1:n.2281T>C
ENST00000245407.8:c.1121T>C MANE Select	ENSP00000245407.3:p.Val374Ala
ENST00000245407.7:c.1121T>C	ENSP00000245407.3:p.Val374Ala
ENST00000435065.6:c.1193T>C	ENSP00000402760.2:p.Val398Ala
ENST00000447841.5:c.112-1675T>C
ENST00000448810.5:c.401-18T>C
ENST00000461013.5:n.8543T>C
ENST00000475308.1:n.1799T>C
ENST00000479605.5:n.224T>C
NM_001308122.1:c.1193T>C	NP_001295051.1:p.Val398Ala
NM_003060.3:c.1121T>C	NP_003051.1:p.Val374Ala
XM_011543590.1:c.503T>C	XP_011541892.1:p.Val168Ala
XR_427718.1:n.1481T>C
XR_948290.1:n.1394-1675T>C
XR_948291.1:n.1475T>C
XM_011543590.2:c.503T>C	XP_011541892.1:p.Val168Ala
XM_017009778.2:c.593T>C	XP_016865267.1:p.Val198Ala
XR_001742215.1:n.1394-18T>C
XR_001742216.1:n.1413-18T>C
XR_427718.2:n.1481T>C
XR_948290.2:n.1394-1675T>C
XR_948291.2:n.1475T>C
NM_003060.4:c.1121T>C MANE Select	NP_003051.1:p.Val374Ala
NM_001308122.2:c.1193T>C	NP_001295051.1:p.Val398Ala