Canonical Allele Identifier: CA360809827

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131729431T>A (hg19) ; chr5:g.132393739T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132393739T>A , CM000667.2:g.132393739T>A	GRCh38
NC_000005.9:g.131729431T>A , CM000667.1:g.131729431T>A	GRCh37
NC_000005.8:g.131757330T>A	NCBI36
NG_008982.1:g.29031T>A
NG_008982.2:g.29036T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-446T>A	ENSP00000388838.2:n.1292-446T>A
ENST00000435065.7:c.1586T>A	ENSP00000402760.2:p.Leu529His
ENST00000448810.6:c.*366T>A	ENSP00000401860.2:n.*366T>A
ENST00000685543.1:n.1655T>A
ENST00000686757.1:c.*678T>A	ENSP00000510721.1:n.*678T>A
ENST00000686868.1:n.506T>A
ENST00000687740.1:n.4199T>A
ENST00000688151.1:n.2824T>A
ENST00000689271.1:c.1361T>A	ENSP00000510797.1:p.Leu454His
ENST00000690900.1:c.*678T>A	ENSP00000510703.1:n.*678T>A
ENST00000692212.1:n.4654T>A
ENST00000692355.1:c.767T>A
ENST00000692413.1:c.1496T>A	ENSP00000509374.1:p.Leu499His
ENST00000692825.1:c.1582T>A	ENSP00000509447.1:n.1582T>A
ENST00000693308.1:c.1562T>A	ENSP00000509770.1:p.Leu521His
ENST00000693763.1:n.2674T>A
ENST00000245407.8:c.1514T>A MANE Select	ENSP00000245407.3:p.Leu505His
ENST00000245407.7:c.1514T>A	ENSP00000245407.3:p.Leu505His
ENST00000435065.6:c.1586T>A	ENSP00000402760.2:p.Leu529His
ENST00000447841.5:c.358T>A
ENST00000448810.5:c.776T>A
ENST00000461013.5:n.8936T>A
ENST00000475308.1:n.2192T>A
NM_001308122.1:c.1586T>A	NP_001295051.1:p.Leu529His
NM_003060.3:c.1514T>A	NP_003051.1:p.Leu505His
XM_011543590.1:c.896T>A	XP_011541892.1:p.Leu299His
XR_948290.1:n.1640T>A
XM_011543590.2:c.896T>A	XP_011541892.1:p.Leu299His
XM_017009778.2:c.986T>A	XP_016865267.1:p.Leu329His
XR_001742215.1:n.1769T>A
XR_001742216.1:n.1788T>A
XR_427718.2:n.1874T>A
XR_948290.2:n.1640T>A
XR_948291.2:n.1868T>A
NM_003060.4:c.1514T>A MANE Select	NP_003051.1:p.Leu505His
NM_001308122.2:c.1586T>A	NP_001295051.1:p.Leu529His