Canonical Allele Identifier: CA360808816

Gene: SLC22A5

Linked Data

• gnomAD v3: 5-132392517-C-T
• gnomAD v4: 5-132392517-C-T
• MyVariant Identifiers: chr5:g.131728209C>T (hg19) ; chr5:g.132392517C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132392517C>T , CM000667.2:g.132392517C>T	GRCh38
NC_000005.9:g.131728209C>T , CM000667.1:g.131728209C>T	GRCh37
NC_000005.8:g.131756108C>T	NCBI36
NG_008982.1:g.27809C>T
NG_008982.2:g.27814C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.1193C>T	ENSP00000388838.2:p.Ala398Val
ENST00000435065.7:c.1424C>T	ENSP00000402760.2:p.Ala475Val
ENST00000448810.6:c.*204C>T	ENSP00000401860.2:n.*204C>T
ENST00000685543.1:n.1493C>T
ENST00000686757.1:c.*516C>T	ENSP00000510721.1:n.*516C>T
ENST00000687740.1:n.4037C>T
ENST00000688151.1:n.2662C>T
ENST00000689271.1:c.1199C>T	ENSP00000510797.1:p.Ala400Val
ENST00000690900.1:c.*516C>T	ENSP00000510703.1:n.*516C>T
ENST00000692212.1:n.4492C>T
ENST00000692355.1:c.605C>T
ENST00000692413.1:c.1334C>T	ENSP00000509374.1:p.Ala445Val
ENST00000692825.1:c.1420C>T	ENSP00000509447.1:n.1420C>T
ENST00000693308.1:c.1400C>T	ENSP00000509770.1:p.Ala467Val
ENST00000693763.1:n.2512C>T
ENST00000245407.8:c.1352C>T MANE Select	ENSP00000245407.3:p.Ala451Val
ENST00000245407.7:c.1352C>T	ENSP00000245407.3:p.Ala451Val
ENST00000435065.6:c.1424C>T	ENSP00000402760.2:p.Ala475Val
ENST00000447841.5:c.196C>T
ENST00000448810.5:c.614C>T
ENST00000461013.5:n.8774C>T
ENST00000475308.1:n.2030C>T
ENST00000479605.5:n.455C>T
NM_001308122.1:c.1424C>T	NP_001295051.1:p.Ala475Val
NM_003060.3:c.1352C>T	NP_003051.1:p.Ala451Val
XM_011543590.1:c.734C>T	XP_011541892.1:p.Ala245Val
XR_948290.1:n.1478C>T
XM_011543590.2:c.734C>T	XP_011541892.1:p.Ala245Val
XM_017009778.2:c.824C>T	XP_016865267.1:p.Ala275Val
XR_001742215.1:n.1607C>T
XR_001742216.1:n.1626C>T
XR_427718.2:n.1712C>T
XR_948290.2:n.1478C>T
XR_948291.2:n.1706C>T
NM_003060.4:c.1352C>T MANE Select	NP_003051.1:p.Ala451Val
NM_001308122.2:c.1424C>T	NP_001295051.1:p.Ala475Val