Canonical Allele Identifier: CA360809865

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131729445C>A (hg19) ; chr5:g.132393753C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132393753C>A , CM000667.2:g.132393753C>A	GRCh38
NC_000005.9:g.131729445C>A , CM000667.1:g.131729445C>A	GRCh37
NC_000005.8:g.131757344C>A	NCBI36
NG_008982.1:g.29045C>A
NG_008982.2:g.29050C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-432C>A	ENSP00000388838.2:n.1292-432C>A
ENST00000435065.7:c.1600C>A	ENSP00000402760.2:p.Pro534Thr
ENST00000448810.6:c.*380C>A	ENSP00000401860.2:n.*380C>A
ENST00000685543.1:n.1669C>A
ENST00000686757.1:c.*692C>A	ENSP00000510721.1:n.*692C>A
ENST00000686868.1:n.520C>A
ENST00000687740.1:n.4213C>A
ENST00000688151.1:n.2838C>A
ENST00000689271.1:c.1375C>A	ENSP00000510797.1:p.Pro459Thr
ENST00000690900.1:c.*692C>A	ENSP00000510703.1:n.*692C>A
ENST00000692212.1:n.4668C>A
ENST00000692355.1:c.781C>A
ENST00000692413.1:c.1510C>A	ENSP00000509374.1:p.Pro504Thr
ENST00000692825.1:c.1596C>A	ENSP00000509447.1:n.1596C>A
ENST00000693308.1:c.1576C>A	ENSP00000509770.1:p.Pro526Thr
ENST00000693763.1:n.2688C>A
ENST00000245407.8:c.1528C>A MANE Select	ENSP00000245407.3:p.Pro510Thr
ENST00000245407.7:c.1528C>A	ENSP00000245407.3:p.Pro510Thr
ENST00000435065.6:c.1600C>A	ENSP00000402760.2:p.Pro534Thr
ENST00000447841.5:c.372C>A
ENST00000448810.5:c.790C>A
ENST00000461013.5:n.8950C>A
ENST00000475308.1:n.2206C>A
NM_001308122.1:c.1600C>A	NP_001295051.1:p.Pro534Thr
NM_003060.3:c.1528C>A	NP_003051.1:p.Pro510Thr
XM_011543590.1:c.910C>A	XP_011541892.1:p.Pro304Thr
XR_948290.1:n.1654C>A
XM_011543590.2:c.910C>A	XP_011541892.1:p.Pro304Thr
XM_017009778.2:c.1000C>A	XP_016865267.1:p.Pro334Thr
XR_001742215.1:n.1783C>A
XR_001742216.1:n.1802C>A
XR_427718.2:n.1888C>A
XR_948290.2:n.1654C>A
XR_948291.2:n.1882C>A
NM_003060.4:c.1528C>A MANE Select	NP_003051.1:p.Pro510Thr
NM_001308122.2:c.1600C>A	NP_001295051.1:p.Pro534Thr