Canonical Allele Identifier: CA360807690

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131726509C>A (hg19) ; chr5:g.132390817C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390817C>A , CM000667.2:g.132390817C>A	GRCh38
NC_000005.9:g.131726509C>A , CM000667.1:g.131726509C>A	GRCh37
NC_000005.8:g.131754408C>A	NCBI36
NG_008982.1:g.26109C>A
NG_008982.2:g.26114C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1021C>A	ENSP00000388838.2:p.Leu341Met
ENST00000435065.7:c.1252C>A	ENSP00000402760.2:p.Leu418Met
ENST00000448810.6:c.*32C>A	ENSP00000401860.2:n.*32C>A
ENST00000685543.1:n.1321C>A
ENST00000686757.1:c.*344C>A	ENSP00000510721.1:n.*344C>A
ENST00000687740.1:n.3865C>A
ENST00000688151.1:n.2490C>A
ENST00000689271.1:c.1027C>A	ENSP00000510797.1:p.Leu343Met
ENST00000690900.1:c.*344C>A	ENSP00000510703.1:n.*344C>A
ENST00000692212.1:n.2792C>A
ENST00000692355.1:c.433C>A
ENST00000692413.1:c.1162C>A	ENSP00000509374.1:p.Leu388Met
ENST00000692825.1:c.1248C>A	ENSP00000509447.1:n.1248C>A
ENST00000693308.1:c.1228C>A	ENSP00000509770.1:p.Leu410Met
ENST00000693763.1:n.2340C>A
ENST00000245407.8:c.1180C>A MANE Select	ENSP00000245407.3:p.Leu394Met
ENST00000245407.7:c.1180C>A	ENSP00000245407.3:p.Leu394Met
ENST00000435065.6:c.1252C>A	ENSP00000402760.2:p.Leu418Met
ENST00000447841.5:c.112-1616C>A
ENST00000448810.5:c.442C>A
ENST00000461013.5:n.8602C>A
ENST00000475308.1:n.1858C>A
ENST00000479605.5:n.283C>A
NM_001308122.1:c.1252C>A	NP_001295051.1:p.Leu418Met
NM_003060.3:c.1180C>A	NP_003051.1:p.Leu394Met
XM_011543590.1:c.562C>A	XP_011541892.1:p.Leu188Met
XR_427718.1:n.1540C>A
XR_948290.1:n.1394-1616C>A
XR_948291.1:n.1534C>A
XM_011543590.2:c.562C>A	XP_011541892.1:p.Leu188Met
XM_017009778.2:c.652C>A	XP_016865267.1:p.Leu218Met
XR_001742215.1:n.1435C>A
XR_001742216.1:n.1454C>A
XR_427718.2:n.1540C>A
XR_948290.2:n.1394-1616C>A
XR_948291.2:n.1534C>A
NM_003060.4:c.1180C>A MANE Select	NP_003051.1:p.Leu394Met
NM_001308122.2:c.1252C>A	NP_001295051.1:p.Leu418Met