Canonical Allele Identifier: CA3404089

Gene: SLC22A5

Linked Data

• ClinVar Variation Id: 553624
• ClinVar RCV Id: RCV000669110 ; RCV002282306
• dbSNP Id: rs746187344
• ExAC: 5:131726468 C / T
• gnomAD v2: 5-131726468-C-T
• gnomAD v3: 5-132390776-C-T
• gnomAD v4: 5-132390776-C-T
• COSMIC: COSM1226062
• MyVariant Identifiers: chr5:g.131726468C>T (hg19) ; chr5:g.132390776C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390776C>T , CM000667.2:g.132390776C>T	GRCh38
NC_000005.9:g.131726468C>T , CM000667.1:g.131726468C>T	GRCh37
NC_000005.8:g.131754367C>T	NCBI36
NG_008982.1:g.26068C>T
NG_008982.2:g.26073C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.980C>T	ENSP00000388838.2:p.Ala327Val
ENST00000435065.7:c.1211C>T	ENSP00000402760.2:p.Ala404Val
ENST00000448810.6:c.1053C>T	ENSP00000401860.2:p.Cys351=
ENST00000685543.1:n.1280C>T
ENST00000686757.1:c.*303C>T	ENSP00000510721.1:n.*303C>T
ENST00000687740.1:n.3824C>T
ENST00000688151.1:n.2449C>T
ENST00000689271.1:c.986C>T	ENSP00000510797.1:p.Ala329Val
ENST00000690900.1:c.*303C>T	ENSP00000510703.1:n.*303C>T
ENST00000692212.1:n.2751C>T
ENST00000692355.1:c.392C>T
ENST00000692413.1:c.1121C>T	ENSP00000509374.1:p.Ala374Val
ENST00000692825.1:c.1207C>T	ENSP00000509447.1:n.1207C>T
ENST00000693308.1:c.1187C>T	ENSP00000509770.1:p.Ala396Val
ENST00000693763.1:n.2299C>T
ENST00000245407.8:c.1139C>T MANE Select	ENSP00000245407.3:p.Ala380Val
ENST00000245407.7:c.1139C>T	ENSP00000245407.3:p.Ala380Val
ENST00000435065.6:c.1211C>T	ENSP00000402760.2:p.Ala404Val
ENST00000447841.5:c.112-1657C>T
ENST00000448810.5:c.401C>T
ENST00000461013.5:n.8561C>T
ENST00000475308.1:n.1817C>T
ENST00000479605.5:n.242C>T
NM_001308122.1:c.1211C>T	NP_001295051.1:p.Ala404Val
NM_003060.3:c.1139C>T	NP_003051.1:p.Ala380Val
XM_011543590.1:c.521C>T	XP_011541892.1:p.Ala174Val
XR_427718.1:n.1499C>T
XR_948290.1:n.1394-1657C>T
XR_948291.1:n.1493C>T
XM_011543590.2:c.521C>T	XP_011541892.1:p.Ala174Val
XM_017009778.2:c.611C>T	XP_016865267.1:p.Ala204Val
XR_001742215.1:n.1394C>T
XR_001742216.1:n.1413C>T
XR_427718.2:n.1499C>T
XR_948290.2:n.1394-1657C>T
XR_948291.2:n.1493C>T
NM_003060.4:c.1139C>T MANE Select	NP_003051.1:p.Ala380Val
NM_001308122.2:c.1211C>T	NP_001295051.1:p.Ala404Val