Canonical Allele Identifier: CA3403997

Gene: SLC22A5

Linked Data

• dbSNP Id: rs760161164
• ExAC: 5:131722689 T / C
• gnomAD v2: 5-131722689-T-C
• gnomAD v3: 5-132386997-T-C
• gnomAD v4: 5-132386997-T-C
• MyVariant Identifiers: chr5:g.131722689T>C (hg19) ; chr5:g.132386997T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132386997T>C , CM000667.2:g.132386997T>C	GRCh38
NC_000005.9:g.131722689T>C , CM000667.1:g.131722689T>C	GRCh37
NC_000005.8:g.131750588T>C	NCBI36
NG_008982.1:g.22289T>C
NG_008982.2:g.22294T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.666-28T>C	ENSP00000388838.2:n.666-28T>C
ENST00000435065.7:c.897-28T>C	ENSP00000402760.2:n.897-28T>C
ENST00000448810.6:c.825-28T>C	ENSP00000401860.2:n.825-28T>C
ENST00000686757.1:c.844-28T>C	ENSP00000510721.1:n.844-28T>C
ENST00000687740.1:n.3482T>C
ENST00000688151.1:n.2135-28T>C
ENST00000689271.1:c.672-28T>C	ENSP00000510797.1:n.672-28T>C
ENST00000690900.1:c.796-28T>C	ENSP00000510703.1:n.796-28T>C
ENST00000692212.1:n.769-28T>C
ENST00000692355.1:c.205-1924T>C
ENST00000692413.1:c.844-65T>C	ENSP00000509374.1:n.844-65T>C
ENST00000692825.1:c.893-28T>C	ENSP00000509447.1:n.893-28T>C
ENST00000693308.1:c.845T>C	ENSP00000509770.1:p.Leu282Pro
ENST00000693763.1:n.1985-28T>C
ENST00000245407.8:c.825-28T>C MANE Select	ENSP00000245407.3:n.825-28T>C
ENST00000245407.7:c.825-28T>C	ENSP00000245407.3:n.825-28T>C
ENST00000415928.5:c.594-28T>C	ENSP00000388838.1:n.594-28T>C
ENST00000435065.6:c.897-28T>C	ENSP00000402760.2:n.897-28T>C
ENST00000437841.6:c.*140-28T>C	ENSP00000400553.1:n.*140-28T>C
ENST00000448810.5:c.173-28T>C
ENST00000461013.5:n.8247-28T>C
NM_001308122.1:c.897-28T>C	NP_001295051.1:n.897-28T>C
NM_003060.3:c.825-28T>C	NP_003051.1:n.825-28T>C
XM_011543590.1:c.207-28T>C	XP_011541892.1:n.207-28T>C
XR_427718.1:n.1185-28T>C
XR_948290.1:n.1166-28T>C
XR_948291.1:n.1179-28T>C
XM_011543590.2:c.207-28T>C	XP_011541892.1:n.207-28T>C
XM_017009778.2:c.297-28T>C	XP_016865267.1:n.297-28T>C
XR_001742215.1:n.1166-28T>C
XR_001742216.1:n.1185-28T>C
XR_427718.2:n.1185-28T>C
XR_948290.2:n.1166-28T>C
XR_948291.2:n.1179-28T>C
NM_003060.4:c.825-28T>C MANE Select	NP_003051.1:n.825-28T>C
NM_001308122.2:c.897-28T>C	NP_001295051.1:n.897-28T>C