Canonical Allele Identifier: CA360805143

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131721120C>A (hg19) ; chr5:g.132385428C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385428C>A , CM000667.2:g.132385428C>A	GRCh38
NC_000005.9:g.131721120C>A , CM000667.1:g.131721120C>A	GRCh37
NC_000005.8:g.131749019C>A	NCBI36
NG_008982.1:g.20720C>A
NG_008982.2:g.20725C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.665+1114C>A	ENSP00000388838.2:n.665+1114C>A
ENST00000435065.7:c.825C>A	ENSP00000402760.2:p.Tyr275Ter
ENST00000448810.6:c.753C>A	ENSP00000401860.2:p.Tyr251Ter
ENST00000686757.1:c.772C>A	ENSP00000510721.1:p.Leu258Ile
ENST00000687740.1:n.1913C>A
ENST00000688151.1:n.1945C>A
ENST00000689271.1:c.671+1108C>A	ENSP00000510797.1:n.671+1108C>A
ENST00000690900.1:c.724C>A	ENSP00000510703.1:p.Leu242Ile
ENST00000692212.1:n.579C>A
ENST00000692355.1:c.204+1127C>A
ENST00000692413.1:c.772C>A	ENSP00000509374.1:p.Leu258Ile
ENST00000692825.1:c.821C>A	ENSP00000509447.1:n.821C>A
ENST00000693308.1:c.766C>A	ENSP00000509770.1:p.Leu256Ile
ENST00000693763.1:n.1913C>A
ENST00000245407.8:c.753C>A MANE Select	ENSP00000245407.3:p.Tyr251Ter
ENST00000245407.7:c.753C>A	ENSP00000245407.3:p.Tyr251Ter
ENST00000415928.5:c.522C>A	ENSP00000388838.1:p.Tyr174Ter
ENST00000435065.6:c.825C>A	ENSP00000402760.2:p.Tyr275Ter
ENST00000437841.6:c.*68C>A	ENSP00000400553.1:n.*68C>A
ENST00000448810.5:c.101C>A
ENST00000461013.5:n.8175C>A
NM_001308122.1:c.825C>A	NP_001295051.1:p.Tyr275Ter
NM_003060.3:c.753C>A	NP_003051.1:p.Tyr251Ter
XM_011543590.1:c.135C>A	XP_011541892.1:p.Tyr45Ter
XR_427718.1:n.1113C>A
XR_948290.1:n.1094C>A
XR_948291.1:n.1107C>A
XM_011543590.2:c.135C>A	XP_011541892.1:p.Tyr45Ter
XM_017009778.2:c.225C>A	XP_016865267.1:p.Tyr75Ter
XR_001742215.1:n.1094C>A
XR_001742216.1:n.1113C>A
XR_427718.2:n.1113C>A
XR_948290.2:n.1094C>A
XR_948291.2:n.1107C>A
NM_003060.4:c.753C>A MANE Select	NP_003051.1:p.Tyr251Ter
NM_001308122.2:c.825C>A	NP_001295051.1:p.Tyr275Ter