Canonical Allele Identifier: CA3404196

Gene: SLC22A5

Linked Data

• dbSNP Id: rs774820478
• ExAC: 5:131729471 A / C
• gnomAD v2: 5-131729471-A-C
• gnomAD v4: 5-132393779-A-C
• MyVariant Identifiers: chr5:g.131729471A>C (hg19) ; chr5:g.132393779A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132393779A>C , CM000667.2:g.132393779A>C	GRCh38
NC_000005.9:g.131729471A>C , CM000667.1:g.131729471A>C	GRCh37
NC_000005.8:g.131757370A>C	NCBI36
NG_008982.1:g.29071A>C
NG_008982.2:g.29076A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-406A>C	ENSP00000388838.2:n.1292-406A>C
ENST00000435065.7:c.1626A>C	ENSP00000402760.2:p.Pro542=
ENST00000448810.6:c.*406A>C	ENSP00000401860.2:n.*406A>C
ENST00000685543.1:n.1695A>C
ENST00000686757.1:c.*718A>C	ENSP00000510721.1:n.*718A>C
ENST00000686868.1:n.546A>C
ENST00000687740.1:n.4239A>C
ENST00000688151.1:n.2864A>C
ENST00000689271.1:c.1401A>C	ENSP00000510797.1:p.Pro467=
ENST00000690900.1:c.*718A>C	ENSP00000510703.1:n.*718A>C
ENST00000692212.1:n.4694A>C
ENST00000692355.1:c.807A>C
ENST00000692413.1:c.1536A>C	ENSP00000509374.1:p.Pro512=
ENST00000692825.1:c.1622A>C	ENSP00000509447.1:n.1622A>C
ENST00000693308.1:c.1602A>C	ENSP00000509770.1:p.Pro534=
ENST00000693763.1:n.2714A>C
ENST00000245407.8:c.1554A>C MANE Select	ENSP00000245407.3:p.Pro518=
ENST00000245407.7:c.1554A>C	ENSP00000245407.3:p.Pro518=
ENST00000435065.6:c.1626A>C	ENSP00000402760.2:p.Pro542=
ENST00000447841.5:c.398A>C
ENST00000448810.5:c.816A>C
ENST00000461013.5:n.8976A>C
ENST00000475308.1:n.2232A>C
NM_001308122.1:c.1626A>C	NP_001295051.1:p.Pro542=
NM_003060.3:c.1554A>C	NP_003051.1:p.Pro518=
XM_011543590.1:c.936A>C	XP_011541892.1:p.Pro312=
XR_948290.1:n.1680A>C
XM_011543590.2:c.936A>C	XP_011541892.1:p.Pro312=
XM_017009778.2:c.1026A>C	XP_016865267.1:p.Pro342=
XR_001742215.1:n.1809A>C
XR_001742216.1:n.1828A>C
XR_427718.2:n.1914A>C
XR_948290.2:n.1680A>C
XR_948291.2:n.1908A>C
NM_003060.4:c.1554A>C MANE Select	NP_003051.1:p.Pro518=
NM_001308122.2:c.1626A>C	NP_001295051.1:p.Pro542=