Canonical Allele Identifier: CA360808803

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131728208G>A (hg19) ; chr5:g.132392516G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132392516G>A , CM000667.2:g.132392516G>A	GRCh38
NC_000005.9:g.131728208G>A , CM000667.1:g.131728208G>A	GRCh37
NC_000005.8:g.131756107G>A	NCBI36
NG_008982.1:g.27808G>A
NG_008982.2:g.27813G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.1192G>A	ENSP00000388838.2:p.Ala398Thr
ENST00000435065.7:c.1423G>A	ENSP00000402760.2:p.Ala475Thr
ENST00000448810.6:c.*203G>A	ENSP00000401860.2:n.*203G>A
ENST00000685543.1:n.1492G>A
ENST00000686757.1:c.*515G>A	ENSP00000510721.1:n.*515G>A
ENST00000687740.1:n.4036G>A
ENST00000688151.1:n.2661G>A
ENST00000689271.1:c.1198G>A	ENSP00000510797.1:p.Ala400Thr
ENST00000690900.1:c.*515G>A	ENSP00000510703.1:n.*515G>A
ENST00000692212.1:n.4491G>A
ENST00000692355.1:c.604G>A
ENST00000692413.1:c.1333G>A	ENSP00000509374.1:p.Ala445Thr
ENST00000692825.1:c.1419G>A	ENSP00000509447.1:n.1419G>A
ENST00000693308.1:c.1399G>A	ENSP00000509770.1:p.Ala467Thr
ENST00000693763.1:n.2511G>A
ENST00000245407.8:c.1351G>A MANE Select	ENSP00000245407.3:p.Ala451Thr
ENST00000245407.7:c.1351G>A	ENSP00000245407.3:p.Ala451Thr
ENST00000435065.6:c.1423G>A	ENSP00000402760.2:p.Ala475Thr
ENST00000447841.5:c.195G>A
ENST00000448810.5:c.613G>A
ENST00000461013.5:n.8773G>A
ENST00000475308.1:n.2029G>A
ENST00000479605.5:n.454G>A
NM_001308122.1:c.1423G>A	NP_001295051.1:p.Ala475Thr
NM_003060.3:c.1351G>A	NP_003051.1:p.Ala451Thr
XM_011543590.1:c.733G>A	XP_011541892.1:p.Ala245Thr
XR_948290.1:n.1477G>A
XM_011543590.2:c.733G>A	XP_011541892.1:p.Ala245Thr
XM_017009778.2:c.823G>A	XP_016865267.1:p.Ala275Thr
XR_001742215.1:n.1606G>A
XR_001742216.1:n.1625G>A
XR_427718.2:n.1711G>A
XR_948290.2:n.1477G>A
XR_948291.2:n.1705G>A
NM_003060.4:c.1351G>A MANE Select	NP_003051.1:p.Ala451Thr
NM_001308122.2:c.1423G>A	NP_001295051.1:p.Ala475Thr