Canonical Allele Identifier: CA360807530

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131726434C>A (hg19) ; chr5:g.132390742C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390742C>A , CM000667.2:g.132390742C>A	GRCh38
NC_000005.9:g.131726434C>A , CM000667.1:g.131726434C>A	GRCh37
NC_000005.8:g.131754333C>A	NCBI36
NG_008982.1:g.26034C>A
NG_008982.2:g.26039C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.946C>A	ENSP00000388838.2:p.His316Asn
ENST00000435065.7:c.1177C>A	ENSP00000402760.2:p.His393Asn
ENST00000448810.6:c.1053-34C>A	ENSP00000401860.2:n.1053-34C>A
ENST00000685543.1:n.1246C>A
ENST00000686757.1:c.*269C>A	ENSP00000510721.1:n.*269C>A
ENST00000687740.1:n.3790C>A
ENST00000688151.1:n.2415C>A
ENST00000689271.1:c.952C>A	ENSP00000510797.1:p.His318Asn
ENST00000690900.1:c.*269C>A	ENSP00000510703.1:n.*269C>A
ENST00000692212.1:n.2717C>A
ENST00000692355.1:c.358C>A
ENST00000692413.1:c.1087C>A	ENSP00000509374.1:p.His363Asn
ENST00000692825.1:c.1173C>A	ENSP00000509447.1:n.1173C>A
ENST00000693308.1:c.1153C>A	ENSP00000509770.1:p.His385Asn
ENST00000693763.1:n.2265C>A
ENST00000245407.8:c.1105C>A MANE Select	ENSP00000245407.3:p.His369Asn
ENST00000245407.7:c.1105C>A	ENSP00000245407.3:p.His369Asn
ENST00000435065.6:c.1177C>A	ENSP00000402760.2:p.His393Asn
ENST00000447841.5:c.112-1691C>A
ENST00000448810.5:c.401-34C>A
ENST00000461013.5:n.8527C>A
ENST00000475308.1:n.1783C>A
ENST00000479605.5:n.208C>A
NM_001308122.1:c.1177C>A	NP_001295051.1:p.His393Asn
NM_003060.3:c.1105C>A	NP_003051.1:p.His369Asn
XM_011543590.1:c.487C>A	XP_011541892.1:p.His163Asn
XR_427718.1:n.1465C>A
XR_948290.1:n.1394-1691C>A
XR_948291.1:n.1459C>A
XM_011543590.2:c.487C>A	XP_011541892.1:p.His163Asn
XM_017009778.2:c.577C>A	XP_016865267.1:p.His193Asn
XR_001742215.1:n.1394-34C>A
XR_001742216.1:n.1413-34C>A
XR_427718.2:n.1465C>A
XR_948290.2:n.1394-1691C>A
XR_948291.2:n.1459C>A
NM_003060.4:c.1105C>A MANE Select	NP_003051.1:p.His369Asn
NM_001308122.2:c.1177C>A	NP_001295051.1:p.His393Asn