Canonical Allele Identifier: CA127213180

Gene: SLC22A5

Linked Data

• dbSNP Id: rs889885505
• gnomAD v2: 5-131729715-T-C
• gnomAD v3: 5-132394023-T-C
• gnomAD v4: 5-132394023-T-C
• MyVariant Identifiers: chr5:g.131729715T>C (hg19) ; chr5:g.132394023T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132394023T>C , CM000667.2:g.132394023T>C	GRCh38
NC_000005.9:g.131729715T>C , CM000667.1:g.131729715T>C	GRCh37
NC_000005.8:g.131757614T>C	NCBI36
NG_008982.1:g.29315T>C
NG_008982.2:g.29320T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-162T>C	ENSP00000388838.2:n.1292-162T>C
ENST00000435065.7:c.1659-162T>C	ENSP00000402760.2:n.1659-162T>C
ENST00000448810.6:c.*439-162T>C	ENSP00000401860.2:n.*439-162T>C
ENST00000685543.1:n.1728-162T>C
ENST00000686757.1:c.*751-162T>C	ENSP00000510721.1:n.*751-162T>C
ENST00000686868.1:n.579-162T>C
ENST00000687740.1:n.4272-162T>C
ENST00000688151.1:n.2897-162T>C
ENST00000689271.1:c.1434-162T>C	ENSP00000510797.1:n.1434-162T>C
ENST00000690900.1:c.*751-162T>C	ENSP00000510703.1:n.*751-162T>C
ENST00000692212.1:n.4727-162T>C
ENST00000692355.1:c.840-162T>C
ENST00000692413.1:c.1569-162T>C	ENSP00000509374.1:n.1569-162T>C
ENST00000692825.1:c.1655-162T>C	ENSP00000509447.1:n.1655-162T>C
ENST00000693308.1:c.1635-162T>C	ENSP00000509770.1:n.1635-162T>C
ENST00000693763.1:n.2747-162T>C
ENST00000245407.8:c.1587-162T>C MANE Select	ENSP00000245407.3:n.1587-162T>C
ENST00000245407.7:c.1587-162T>C	ENSP00000245407.3:n.1587-162T>C
ENST00000435065.6:c.1659-162T>C	ENSP00000402760.2:n.1659-162T>C
ENST00000447841.5:c.431-162T>C
ENST00000461013.5:n.9009-162T>C
ENST00000475308.1:n.2265-162T>C
NM_001308122.1:c.1659-162T>C	NP_001295051.1:n.1659-162T>C
NM_003060.3:c.1587-162T>C	NP_003051.1:n.1587-162T>C
XM_011543590.1:c.969-162T>C	XP_011541892.1:n.969-162T>C
XR_948290.1:n.1713-162T>C
XM_011543590.2:c.969-162T>C	XP_011541892.1:n.969-162T>C
XM_017009778.2:c.1059-162T>C	XP_016865267.1:n.1059-162T>C
XR_001742215.1:n.1842-162T>C
XR_001742216.1:n.1861-162T>C
XR_427718.2:n.1947-162T>C
XR_948290.2:n.1713-162T>C
XR_948291.2:n.1941-162T>C
NM_003060.4:c.1587-162T>C MANE Select	NP_003051.1:n.1587-162T>C
NM_001308122.2:c.1659-162T>C	NP_001295051.1:n.1659-162T>C