Canonical Allele Identifier: CA1583146084

Gene: SLC22A5

Linked Data

• ClinVar Variation Id: 1025579
• ClinVar RCV Id: RCV001325909
• dbSNP Id: rs1752553572
• gnomAD v4: 5-132387015-G-GTAC

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132387017_132387019dup , CM000667.2:g.132387017_132387019dup	GRCh38
NC_000005.9:g.131722709_131722711dup , CM000667.1:g.131722709_131722711dup	GRCh37
NC_000005.8:g.131750608_131750610dup	NCBI36
NG_008982.1:g.22309_22311dup
NG_008982.2:g.22314_22316dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.666-8_666-6dup	ENSP00000388838.2:n.666-8_666-6dup
ENST00000435065.7:c.897-8_897-6dup	ENSP00000402760.2:n.897-8_897-6dup
ENST00000448810.6:c.825-8_825-6dup	ENSP00000401860.2:n.825-8_825-6dup
ENST00000686757.1:c.844-8_844-6dup	ENSP00000510721.1:n.844-8_844-6dup
ENST00000687740.1:n.3502_3504dup
ENST00000688151.1:n.2135-8_2135-6dup
ENST00000689271.1:c.672-8_672-6dup	ENSP00000510797.1:n.672-8_672-6dup
ENST00000690900.1:c.796-8_796-6dup	ENSP00000510703.1:n.796-8_796-6dup
ENST00000692212.1:n.769-8_769-6dup
ENST00000692355.1:c.205-1904_205-1902dup
ENST00000692413.1:c.844-45_844-43dup	ENSP00000509374.1:n.844-45_844-43dup
ENST00000692825.1:c.893-8_893-6dup	ENSP00000509447.1:n.893-8_893-6dup
ENST00000693308.1:c.865_867dup	ENSP00000509770.1:p.Thr289_Ala290insThr
ENST00000693763.1:n.1985-8_1985-6dup
ENST00000245407.8:c.825-8_825-6dup MANE Select	ENSP00000245407.3:n.825-8_825-6dup
ENST00000245407.7:c.825-8_825-6dup	ENSP00000245407.3:n.825-8_825-6dup
ENST00000415928.5:c.594-8_594-6dup	ENSP00000388838.1:n.594-8_594-6dup
ENST00000435065.6:c.897-8_897-6dup	ENSP00000402760.2:n.897-8_897-6dup
ENST00000437841.6:c.*140-8_*140-6dup	ENSP00000400553.1:n.*140-8_*140-6dup
ENST00000448810.5:c.173-8_173-6dup
ENST00000461013.5:n.8247-8_8247-6dup
NM_001308122.1:c.897-8_897-6dup	NP_001295051.1:n.897-8_897-6dup
NM_003060.3:c.825-8_825-6dup	NP_003051.1:n.825-8_825-6dup
XM_011543590.1:c.207-8_207-6dup	XP_011541892.1:n.207-8_207-6dup
XR_427718.1:n.1185-8_1185-6dup
XR_948290.1:n.1166-8_1166-6dup
XR_948291.1:n.1179-8_1179-6dup
XM_011543590.2:c.207-8_207-6dup	XP_011541892.1:n.207-8_207-6dup
XM_017009778.2:c.297-8_297-6dup	XP_016865267.1:n.297-8_297-6dup
XR_001742215.1:n.1166-8_1166-6dup
XR_001742216.1:n.1185-8_1185-6dup
XR_427718.2:n.1185-8_1185-6dup
XR_948290.2:n.1166-8_1166-6dup
XR_948291.2:n.1179-8_1179-6dup
NM_003060.4:c.825-8_825-6dup MANE Select	NP_003051.1:n.825-8_825-6dup
NM_001308122.2:c.897-8_897-6dup	NP_001295051.1:n.897-8_897-6dup