Canonical Allele Identifier: CA360805118

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131721109C>A (hg19) ; chr5:g.132385417C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385417C>A , CM000667.2:g.132385417C>A	GRCh38
NC_000005.9:g.131721109C>A , CM000667.1:g.131721109C>A	GRCh37
NC_000005.8:g.131749008C>A	NCBI36
NG_008982.1:g.20709C>A
NG_008982.2:g.20714C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.665+1103C>A	ENSP00000388838.2:n.665+1103C>A
ENST00000435065.7:c.814C>A	ENSP00000402760.2:p.Leu272Met
ENST00000448810.6:c.742C>A	ENSP00000401860.2:p.Leu248Met
ENST00000686757.1:c.761C>A	ENSP00000510721.1:p.Thr254Asn
ENST00000687740.1:n.1902C>A
ENST00000688151.1:n.1934C>A
ENST00000689271.1:c.671+1097C>A	ENSP00000510797.1:n.671+1097C>A
ENST00000690900.1:c.713C>A	ENSP00000510703.1:p.Thr238Asn
ENST00000692212.1:n.568C>A
ENST00000692355.1:c.204+1116C>A
ENST00000692413.1:c.761C>A	ENSP00000509374.1:p.Thr254Asn
ENST00000692825.1:c.810C>A	ENSP00000509447.1:n.810C>A
ENST00000693308.1:c.755C>A	ENSP00000509770.1:p.Thr252Asn
ENST00000693763.1:n.1902C>A
ENST00000245407.8:c.742C>A MANE Select	ENSP00000245407.3:p.Leu248Met
ENST00000245407.7:c.742C>A	ENSP00000245407.3:p.Leu248Met
ENST00000415928.5:c.511C>A	ENSP00000388838.1:p.Leu171Met
ENST00000435065.6:c.814C>A	ENSP00000402760.2:p.Leu272Met
ENST00000437841.6:c.*57C>A	ENSP00000400553.1:n.*57C>A
ENST00000448810.5:c.90C>A
ENST00000461013.5:n.8164C>A
NM_001308122.1:c.814C>A	NP_001295051.1:p.Leu272Met
NM_003060.3:c.742C>A	NP_003051.1:p.Leu248Met
XM_011543590.1:c.124C>A	XP_011541892.1:p.Leu42Met
XR_427718.1:n.1102C>A
XR_948290.1:n.1083C>A
XR_948291.1:n.1096C>A
XM_011543590.2:c.124C>A	XP_011541892.1:p.Leu42Met
XM_017009778.2:c.214C>A	XP_016865267.1:p.Leu72Met
XR_001742215.1:n.1083C>A
XR_001742216.1:n.1102C>A
XR_427718.2:n.1102C>A
XR_948290.2:n.1083C>A
XR_948291.2:n.1096C>A
NM_003060.4:c.742C>A MANE Select	NP_003051.1:p.Leu248Met
NM_001308122.2:c.814C>A	NP_001295051.1:p.Leu272Met