Canonical Allele Identifier: CA360808716

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131728196T>C (hg19) ; chr5:g.132392504T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132392504T>C , CM000667.2:g.132392504T>C	GRCh38
NC_000005.9:g.131728196T>C , CM000667.1:g.131728196T>C	GRCh37
NC_000005.8:g.131756095T>C	NCBI36
NG_008982.1:g.27796T>C
NG_008982.2:g.27801T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.1180T>C	ENSP00000388838.2:p.Tyr394His
ENST00000435065.7:c.1411T>C	ENSP00000402760.2:p.Tyr471His
ENST00000448810.6:c.*191T>C	ENSP00000401860.2:n.*191T>C
ENST00000685543.1:n.1480T>C
ENST00000686757.1:c.*503T>C	ENSP00000510721.1:n.*503T>C
ENST00000687740.1:n.4024T>C
ENST00000688151.1:n.2649T>C
ENST00000689271.1:c.1186T>C	ENSP00000510797.1:p.Tyr396His
ENST00000690900.1:c.*503T>C	ENSP00000510703.1:n.*503T>C
ENST00000692212.1:n.4479T>C
ENST00000692355.1:c.592T>C
ENST00000692413.1:c.1321T>C	ENSP00000509374.1:p.Tyr441His
ENST00000692825.1:c.1407T>C	ENSP00000509447.1:n.1407T>C
ENST00000693308.1:c.1387T>C	ENSP00000509770.1:p.Tyr463His
ENST00000693763.1:n.2499T>C
ENST00000245407.8:c.1339T>C MANE Select	ENSP00000245407.3:p.Tyr447His
ENST00000245407.7:c.1339T>C	ENSP00000245407.3:p.Tyr447His
ENST00000435065.6:c.1411T>C	ENSP00000402760.2:p.Tyr471His
ENST00000447841.5:c.183T>C
ENST00000448810.5:c.601T>C
ENST00000461013.5:n.8761T>C
ENST00000475308.1:n.2017T>C
ENST00000479605.5:n.442T>C
NM_001308122.1:c.1411T>C	NP_001295051.1:p.Tyr471His
NM_003060.3:c.1339T>C	NP_003051.1:p.Tyr447His
XM_011543590.1:c.721T>C	XP_011541892.1:p.Tyr241His
XR_948290.1:n.1465T>C
XM_011543590.2:c.721T>C	XP_011541892.1:p.Tyr241His
XM_017009778.2:c.811T>C	XP_016865267.1:p.Tyr271His
XR_001742215.1:n.1594T>C
XR_001742216.1:n.1613T>C
XR_427718.2:n.1699T>C
XR_948290.2:n.1465T>C
XR_948291.2:n.1693T>C
NM_003060.4:c.1339T>C MANE Select	NP_003051.1:p.Tyr447His
NM_001308122.2:c.1411T>C	NP_001295051.1:p.Tyr471His