Canonical Allele Identifier: CA360808843

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131728212A>C (hg19) ; chr5:g.132392520A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132392520A>C , CM000667.2:g.132392520A>C	GRCh38
NC_000005.9:g.131728212A>C , CM000667.1:g.131728212A>C	GRCh37
NC_000005.8:g.131756111A>C	NCBI36
NG_008982.1:g.27812A>C
NG_008982.2:g.27817A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.1196A>C	ENSP00000388838.2:p.Glu399Ala
ENST00000435065.7:c.1427A>C	ENSP00000402760.2:p.Glu476Ala
ENST00000448810.6:c.*207A>C	ENSP00000401860.2:n.*207A>C
ENST00000685543.1:n.1496A>C
ENST00000686757.1:c.*519A>C	ENSP00000510721.1:n.*519A>C
ENST00000687740.1:n.4040A>C
ENST00000688151.1:n.2665A>C
ENST00000689271.1:c.1202A>C	ENSP00000510797.1:p.Glu401Ala
ENST00000690900.1:c.*519A>C	ENSP00000510703.1:n.*519A>C
ENST00000692212.1:n.4495A>C
ENST00000692355.1:c.608A>C
ENST00000692413.1:c.1337A>C	ENSP00000509374.1:p.Glu446Ala
ENST00000692825.1:c.1423A>C	ENSP00000509447.1:n.1423A>C
ENST00000693308.1:c.1403A>C	ENSP00000509770.1:p.Glu468Ala
ENST00000693763.1:n.2515A>C
ENST00000245407.8:c.1355A>C MANE Select	ENSP00000245407.3:p.Glu452Ala
ENST00000245407.7:c.1355A>C	ENSP00000245407.3:p.Glu452Ala
ENST00000435065.6:c.1427A>C	ENSP00000402760.2:p.Glu476Ala
ENST00000447841.5:c.199A>C
ENST00000448810.5:c.617A>C
ENST00000461013.5:n.8777A>C
ENST00000475308.1:n.2033A>C
ENST00000479605.5:n.458A>C
NM_001308122.1:c.1427A>C	NP_001295051.1:p.Glu476Ala
NM_003060.3:c.1355A>C	NP_003051.1:p.Glu452Ala
XM_011543590.1:c.737A>C	XP_011541892.1:p.Glu246Ala
XR_948290.1:n.1481A>C
XM_011543590.2:c.737A>C	XP_011541892.1:p.Glu246Ala
XM_017009778.2:c.827A>C	XP_016865267.1:p.Glu276Ala
XR_001742215.1:n.1610A>C
XR_001742216.1:n.1629A>C
XR_427718.2:n.1715A>C
XR_948290.2:n.1481A>C
XR_948291.2:n.1709A>C
NM_003060.4:c.1355A>C MANE Select	NP_003051.1:p.Glu452Ala
NM_001308122.2:c.1427A>C	NP_001295051.1:p.Glu476Ala