Canonical Allele Identifier: CA360808850

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131728213G>T (hg19) ; chr5:g.132392521G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132392521G>T , CM000667.2:g.132392521G>T	GRCh38
NC_000005.9:g.131728213G>T , CM000667.1:g.131728213G>T	GRCh37
NC_000005.8:g.131756112G>T	NCBI36
NG_008982.1:g.27813G>T
NG_008982.2:g.27818G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1197G>T	ENSP00000388838.2:p.Glu399Asp
ENST00000435065.7:c.1428G>T	ENSP00000402760.2:p.Glu476Asp
ENST00000448810.6:c.*208G>T	ENSP00000401860.2:n.*208G>T
ENST00000685543.1:n.1497G>T
ENST00000686757.1:c.*520G>T	ENSP00000510721.1:n.*520G>T
ENST00000687740.1:n.4041G>T
ENST00000688151.1:n.2666G>T
ENST00000689271.1:c.1203G>T	ENSP00000510797.1:p.Glu401Asp
ENST00000690900.1:c.*520G>T	ENSP00000510703.1:n.*520G>T
ENST00000692212.1:n.4496G>T
ENST00000692355.1:c.609G>T
ENST00000692413.1:c.1338G>T	ENSP00000509374.1:p.Glu446Asp
ENST00000692825.1:c.1424G>T	ENSP00000509447.1:n.1424G>T
ENST00000693308.1:c.1404G>T	ENSP00000509770.1:p.Glu468Asp
ENST00000693763.1:n.2516G>T
ENST00000245407.8:c.1356G>T MANE Select	ENSP00000245407.3:p.Glu452Asp
ENST00000245407.7:c.1356G>T	ENSP00000245407.3:p.Glu452Asp
ENST00000435065.6:c.1428G>T	ENSP00000402760.2:p.Glu476Asp
ENST00000447841.5:c.200G>T
ENST00000448810.5:c.618G>T
ENST00000461013.5:n.8778G>T
ENST00000475308.1:n.2034G>T
ENST00000479605.5:n.459G>T
NM_001308122.1:c.1428G>T	NP_001295051.1:p.Glu476Asp
NM_003060.3:c.1356G>T	NP_003051.1:p.Glu452Asp
XM_011543590.1:c.738G>T	XP_011541892.1:p.Glu246Asp
XR_948290.1:n.1482G>T
XM_011543590.2:c.738G>T	XP_011541892.1:p.Glu246Asp
XM_017009778.2:c.828G>T	XP_016865267.1:p.Glu276Asp
XR_001742215.1:n.1611G>T
XR_001742216.1:n.1630G>T
XR_427718.2:n.1716G>T
XR_948290.2:n.1482G>T
XR_948291.2:n.1710G>T
NM_003060.4:c.1356G>T MANE Select	NP_003051.1:p.Glu452Asp
NM_001308122.2:c.1428G>T	NP_001295051.1:p.Glu476Asp