Canonical Allele Identifier: CA3403930

Gene: SLC22A5

Linked Data

• ClinVar Variation Id: 460409
• ClinVar RCV Id: RCV000533484 ; RCV001274335 ; RCV002461295
• dbSNP Id: rs757979350
• ExAC: 5:131719933 G / A
• gnomAD v2: 5-131719933-G-A
• gnomAD v3: 5-132384241-G-A
• gnomAD v4: 5-132384241-G-A
• MyVariant Identifiers: chr5:g.131719933G>A (hg19) ; chr5:g.132384241G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132384241G>A , CM000667.2:g.132384241G>A	GRCh38
NC_000005.9:g.131719933G>A , CM000667.1:g.131719933G>A	GRCh37
NC_000005.8:g.131747832G>A	NCBI36
NG_008982.1:g.19533G>A
NG_008982.2:g.19538G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.592G>A	ENSP00000388838.2:p.Val198Met
ENST00000435065.7:c.664G>A	ENSP00000402760.2:p.Val222Met
ENST00000448810.6:c.592G>A	ENSP00000401860.2:p.Val198Met
ENST00000686757.1:c.592G>A	ENSP00000510721.1:p.Val198Met
ENST00000687740.1:n.726G>A
ENST00000688151.1:n.1771G>A
ENST00000689271.1:c.592G>A	ENSP00000510797.1:p.Val198Met
ENST00000690900.1:c.592G>A	ENSP00000510703.1:p.Val198Met
ENST00000692355.1:c.144G>A
ENST00000692413.1:c.592G>A	ENSP00000509374.1:p.Val198Met
ENST00000692825.1:c.660G>A	ENSP00000509447.1:n.660G>A
ENST00000693308.1:c.592G>A	ENSP00000509770.1:p.Val198Met
ENST00000693763.1:n.726G>A
ENST00000245407.8:c.592G>A MANE Select	ENSP00000245407.3:p.Val198Met
ENST00000245407.7:c.592G>A	ENSP00000245407.3:p.Val198Met
ENST00000415928.5:c.361G>A	ENSP00000388838.1:p.Val121Met
ENST00000435065.6:c.664G>A	ENSP00000402760.2:p.Val222Met
ENST00000437841.6:c.394-1087G>A	ENSP00000400553.1:n.394-1087G>A
ENST00000461013.5:n.8014G>A
NM_001308122.1:c.664G>A	NP_001295051.1:p.Val222Met
NM_003060.3:c.592G>A	NP_003051.1:p.Val198Met
XM_011543590.1:c.-40G>A	XP_011541892.1:n.-40G>A
XR_427718.1:n.933G>A
XR_948290.1:n.933G>A
XR_948291.1:n.933G>A
XM_011543590.2:c.-40G>A	XP_011541892.1:n.-40G>A
XM_017009778.2:c.64G>A	XP_016865267.1:p.Val22Met
XR_001742215.1:n.933G>A
XR_001742216.1:n.933G>A
XR_427718.2:n.933G>A
XR_948290.2:n.933G>A
XR_948291.2:n.933G>A
NM_003060.4:c.592G>A MANE Select	NP_003051.1:p.Val198Met
NM_001308122.2:c.664G>A	NP_001295051.1:p.Val222Met