Canonical Allele Identifier: CA360805271

Gene: SLC22A5

Linked Data

• ClinVar Variation Id: 2499672
• ClinVar RCV Id: RCV003223597
• MyVariant Identifiers: chr5:g.131721188G>A (hg19) ; chr5:g.132385496G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385496G>A , CM000667.2:g.132385496G>A	GRCh38
NC_000005.9:g.131721188G>A , CM000667.1:g.131721188G>A	GRCh37
NC_000005.8:g.131749087G>A	NCBI36
NG_008982.1:g.20788G>A
NG_008982.2:g.20793G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.665+1182G>A	ENSP00000388838.2:n.665+1182G>A
ENST00000435065.7:c.893G>A	ENSP00000402760.2:p.Trp298Ter
ENST00000448810.6:c.821G>A	ENSP00000401860.2:p.Trp274Ter
ENST00000686757.1:c.840G>A	ENSP00000510721.1:p.Leu280=
ENST00000687740.1:n.1981G>A
ENST00000688151.1:n.2013G>A
ENST00000689271.1:c.671+1176G>A	ENSP00000510797.1:n.671+1176G>A
ENST00000690900.1:c.792G>A	ENSP00000510703.1:p.Leu264=
ENST00000692212.1:n.647G>A
ENST00000692355.1:c.204+1195G>A
ENST00000692413.1:c.840G>A	ENSP00000509374.1:p.Leu280=
ENST00000692825.1:c.889G>A	ENSP00000509447.1:n.889G>A
ENST00000693308.1:c.834G>A	ENSP00000509770.1:p.Leu278=
ENST00000693763.1:n.1981G>A
ENST00000245407.8:c.821G>A MANE Select	ENSP00000245407.3:p.Trp274Ter
ENST00000245407.7:c.821G>A	ENSP00000245407.3:p.Trp274Ter
ENST00000415928.5:c.590G>A	ENSP00000388838.1:p.Trp197Ter
ENST00000435065.6:c.893G>A	ENSP00000402760.2:p.Trp298Ter
ENST00000437841.6:c.*136G>A	ENSP00000400553.1:n.*136G>A
ENST00000448810.5:c.169G>A
ENST00000461013.5:n.8243G>A
NM_001308122.1:c.893G>A	NP_001295051.1:p.Trp298Ter
NM_003060.3:c.821G>A	NP_003051.1:p.Trp274Ter
XM_011543590.1:c.203G>A	XP_011541892.1:p.Trp68Ter
XR_427718.1:n.1181G>A
XR_948290.1:n.1162G>A
XR_948291.1:n.1175G>A
XM_011543590.2:c.203G>A	XP_011541892.1:p.Trp68Ter
XM_017009778.2:c.293G>A	XP_016865267.1:p.Trp98Ter
XR_001742215.1:n.1162G>A
XR_001742216.1:n.1181G>A
XR_427718.2:n.1181G>A
XR_948290.2:n.1162G>A
XR_948291.2:n.1175G>A
NM_003060.4:c.821G>A MANE Select	NP_003051.1:p.Trp274Ter
NM_001308122.2:c.893G>A	NP_001295051.1:p.Trp298Ter