Canonical Allele Identifier: CA3404097

Gene: SLC22A5

Linked Data

• dbSNP Id: rs766267814
• ExAC: 5:131726542 A / C
• gnomAD v2: 5-131726542-A-C
• gnomAD v4: 5-132390850-A-C
• MyVariant Identifiers: chr5:g.131726542A>C (hg19) ; chr5:g.132390850A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390850A>C , CM000667.2:g.132390850A>C	GRCh38
NC_000005.9:g.131726542A>C , CM000667.1:g.131726542A>C	GRCh37
NC_000005.8:g.131754441A>C	NCBI36
NG_008982.1:g.26142A>C
NG_008982.2:g.26147A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1054A>C	ENSP00000388838.2:p.Thr352Pro
ENST00000435065.7:c.1285A>C	ENSP00000402760.2:p.Thr429Pro
ENST00000448810.6:c.*65A>C	ENSP00000401860.2:n.*65A>C
ENST00000685543.1:n.1354A>C
ENST00000686757.1:c.*377A>C	ENSP00000510721.1:n.*377A>C
ENST00000687740.1:n.3898A>C
ENST00000688151.1:n.2523A>C
ENST00000689271.1:c.1060A>C	ENSP00000510797.1:p.Thr354Pro
ENST00000690900.1:c.*377A>C	ENSP00000510703.1:n.*377A>C
ENST00000692212.1:n.2825A>C
ENST00000692355.1:c.466A>C
ENST00000692413.1:c.1195A>C	ENSP00000509374.1:p.Thr399Pro
ENST00000692825.1:c.1281A>C	ENSP00000509447.1:n.1281A>C
ENST00000693308.1:c.1261A>C	ENSP00000509770.1:p.Thr421Pro
ENST00000693763.1:n.2373A>C
ENST00000245407.8:c.1213A>C MANE Select	ENSP00000245407.3:p.Thr405Pro
ENST00000245407.7:c.1213A>C	ENSP00000245407.3:p.Thr405Pro
ENST00000435065.6:c.1285A>C	ENSP00000402760.2:p.Thr429Pro
ENST00000447841.5:c.112-1583A>C
ENST00000448810.5:c.475A>C
ENST00000461013.5:n.8635A>C
ENST00000475308.1:n.1891A>C
ENST00000479605.5:n.316A>C
NM_001308122.1:c.1285A>C	NP_001295051.1:p.Thr429Pro
NM_003060.3:c.1213A>C	NP_003051.1:p.Thr405Pro
XM_011543590.1:c.595A>C	XP_011541892.1:p.Thr199Pro
XR_427718.1:n.1573A>C
XR_948290.1:n.1394-1583A>C
XR_948291.1:n.1567A>C
XM_011543590.2:c.595A>C	XP_011541892.1:p.Thr199Pro
XM_017009778.2:c.685A>C	XP_016865267.1:p.Thr229Pro
XR_001742215.1:n.1468A>C
XR_001742216.1:n.1487A>C
XR_427718.2:n.1573A>C
XR_948290.2:n.1394-1583A>C
XR_948291.2:n.1567A>C
NM_003060.4:c.1213A>C MANE Select	NP_003051.1:p.Thr405Pro
NM_001308122.2:c.1285A>C	NP_001295051.1:p.Thr429Pro