Canonical Allele Identifier: CA360807555

Gene: SLC22A5

Linked Data

• gnomAD v4: 5-132390752-T-C
• MyVariant Identifiers: chr5:g.131726444T>C (hg19) ; chr5:g.132390752T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390752T>C , CM000667.2:g.132390752T>C	GRCh38
NC_000005.9:g.131726444T>C , CM000667.1:g.131726444T>C	GRCh37
NC_000005.8:g.131754343T>C	NCBI36
NG_008982.1:g.26044T>C
NG_008982.2:g.26049T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.956T>C	ENSP00000388838.2:p.Ile319Thr
ENST00000435065.7:c.1187T>C	ENSP00000402760.2:p.Ile396Thr
ENST00000448810.6:c.1053-24T>C	ENSP00000401860.2:n.1053-24T>C
ENST00000685543.1:n.1256T>C
ENST00000686757.1:c.*279T>C	ENSP00000510721.1:n.*279T>C
ENST00000687740.1:n.3800T>C
ENST00000688151.1:n.2425T>C
ENST00000689271.1:c.962T>C	ENSP00000510797.1:p.Ile321Thr
ENST00000690900.1:c.*279T>C	ENSP00000510703.1:n.*279T>C
ENST00000692212.1:n.2727T>C
ENST00000692355.1:c.368T>C
ENST00000692413.1:c.1097T>C	ENSP00000509374.1:p.Ile366Thr
ENST00000692825.1:c.1183T>C	ENSP00000509447.1:n.1183T>C
ENST00000693308.1:c.1163T>C	ENSP00000509770.1:p.Ile388Thr
ENST00000693763.1:n.2275T>C
ENST00000245407.8:c.1115T>C MANE Select	ENSP00000245407.3:p.Ile372Thr
ENST00000245407.7:c.1115T>C	ENSP00000245407.3:p.Ile372Thr
ENST00000435065.6:c.1187T>C	ENSP00000402760.2:p.Ile396Thr
ENST00000447841.5:c.112-1681T>C
ENST00000448810.5:c.401-24T>C
ENST00000461013.5:n.8537T>C
ENST00000475308.1:n.1793T>C
ENST00000479605.5:n.218T>C
NM_001308122.1:c.1187T>C	NP_001295051.1:p.Ile396Thr
NM_003060.3:c.1115T>C	NP_003051.1:p.Ile372Thr
XM_011543590.1:c.497T>C	XP_011541892.1:p.Ile166Thr
XR_427718.1:n.1475T>C
XR_948290.1:n.1394-1681T>C
XR_948291.1:n.1469T>C
XM_011543590.2:c.497T>C	XP_011541892.1:p.Ile166Thr
XM_017009778.2:c.587T>C	XP_016865267.1:p.Ile196Thr
XR_001742215.1:n.1394-24T>C
XR_001742216.1:n.1413-24T>C
XR_427718.2:n.1475T>C
XR_948290.2:n.1394-1681T>C
XR_948291.2:n.1469T>C
NM_003060.4:c.1115T>C MANE Select	NP_003051.1:p.Ile372Thr
NM_001308122.2:c.1187T>C	NP_001295051.1:p.Ile396Thr