Canonical Allele Identifier: CA446337877

Gene: SLC22A5

Linked Data

• ClinVar Variation Id: 763938
• ClinVar RCV Id: RCV001503260
• dbSNP Id: rs1580892312
• gnomAD v4: 5-132390744-T-C
• MyVariant Identifiers: chr5:g.131726436T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390744T>C , CM000667.2:g.132390744T>C	GRCh38
NC_000005.9:g.131726436T>C , CM000667.1:g.131726436T>C	GRCh37
NC_000005.8:g.131754335T>C	NCBI36
NG_008982.1:g.26036T>C
NG_008982.2:g.26041T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.948T>C	ENSP00000388838.2:p.His316=
ENST00000435065.7:c.1179T>C	ENSP00000402760.2:p.His393=
ENST00000448810.6:c.1053-32T>C	ENSP00000401860.2:n.1053-32T>C
ENST00000685543.1:n.1248T>C
ENST00000686757.1:c.*271T>C	ENSP00000510721.1:n.*271T>C
ENST00000687740.1:n.3792T>C
ENST00000688151.1:n.2417T>C
ENST00000689271.1:c.954T>C	ENSP00000510797.1:p.His318=
ENST00000690900.1:c.*271T>C	ENSP00000510703.1:n.*271T>C
ENST00000692212.1:n.2719T>C
ENST00000692355.1:c.360T>C
ENST00000692413.1:c.1089T>C	ENSP00000509374.1:p.His363=
ENST00000692825.1:c.1175T>C	ENSP00000509447.1:n.1175T>C
ENST00000693308.1:c.1155T>C	ENSP00000509770.1:p.His385=
ENST00000693763.1:n.2267T>C
ENST00000245407.8:c.1107T>C MANE Select	ENSP00000245407.3:p.His369=
ENST00000245407.7:c.1107T>C	ENSP00000245407.3:p.His369=
ENST00000435065.6:c.1179T>C	ENSP00000402760.2:p.His393=
ENST00000447841.5:c.112-1689T>C
ENST00000448810.5:c.401-32T>C
ENST00000461013.5:n.8529T>C
ENST00000475308.1:n.1785T>C
ENST00000479605.5:n.210T>C
NM_001308122.1:c.1179T>C	NP_001295051.1:p.His393=
NM_003060.3:c.1107T>C	NP_003051.1:p.His369=
XM_011543590.1:c.489T>C	XP_011541892.1:p.His163=
XR_427718.1:n.1467T>C
XR_948290.1:n.1394-1689T>C
XR_948291.1:n.1461T>C
XM_011543590.2:c.489T>C	XP_011541892.1:p.His163=
XM_017009778.2:c.579T>C	XP_016865267.1:p.His193=
XR_001742215.1:n.1394-32T>C
XR_001742216.1:n.1413-32T>C
XR_427718.2:n.1467T>C
XR_948290.2:n.1394-1689T>C
XR_948291.2:n.1461T>C
NM_003060.4:c.1107T>C MANE Select	NP_003051.1:p.His369=
NM_001308122.2:c.1179T>C	NP_001295051.1:p.His393=