Canonical Allele Identifier: CA360805266

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131721185T>A (hg19) ; chr5:g.132385493T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385493T>A , CM000667.2:g.132385493T>A	GRCh38
NC_000005.9:g.131721185T>A , CM000667.1:g.131721185T>A	GRCh37
NC_000005.8:g.131749084T>A	NCBI36
NG_008982.1:g.20785T>A
NG_008982.2:g.20790T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.665+1179T>A	ENSP00000388838.2:n.665+1179T>A
ENST00000435065.7:c.890T>A	ENSP00000402760.2:p.Leu297His
ENST00000448810.6:c.818T>A	ENSP00000401860.2:p.Leu273His
ENST00000686757.1:c.837T>A	ENSP00000510721.1:p.Thr279=
ENST00000687740.1:n.1978T>A
ENST00000688151.1:n.2010T>A
ENST00000689271.1:c.671+1173T>A	ENSP00000510797.1:n.671+1173T>A
ENST00000690900.1:c.789T>A	ENSP00000510703.1:p.Thr263=
ENST00000692212.1:n.644T>A
ENST00000692355.1:c.204+1192T>A
ENST00000692413.1:c.837T>A	ENSP00000509374.1:p.Thr279=
ENST00000692825.1:c.886T>A	ENSP00000509447.1:n.886T>A
ENST00000693308.1:c.831T>A	ENSP00000509770.1:p.Thr277=
ENST00000693763.1:n.1978T>A
ENST00000245407.8:c.818T>A MANE Select	ENSP00000245407.3:p.Leu273His
ENST00000245407.7:c.818T>A	ENSP00000245407.3:p.Leu273His
ENST00000415928.5:c.587T>A	ENSP00000388838.1:p.Leu196His
ENST00000435065.6:c.890T>A	ENSP00000402760.2:p.Leu297His
ENST00000437841.6:c.*133T>A	ENSP00000400553.1:n.*133T>A
ENST00000448810.5:c.166T>A
ENST00000461013.5:n.8240T>A
NM_001308122.1:c.890T>A	NP_001295051.1:p.Leu297His
NM_003060.3:c.818T>A	NP_003051.1:p.Leu273His
XM_011543590.1:c.200T>A	XP_011541892.1:p.Leu67His
XR_427718.1:n.1178T>A
XR_948290.1:n.1159T>A
XR_948291.1:n.1172T>A
XM_011543590.2:c.200T>A	XP_011541892.1:p.Leu67His
XM_017009778.2:c.290T>A	XP_016865267.1:p.Leu97His
XR_001742215.1:n.1159T>A
XR_001742216.1:n.1178T>A
XR_427718.2:n.1178T>A
XR_948290.2:n.1159T>A
XR_948291.2:n.1172T>A
NM_003060.4:c.818T>A MANE Select	NP_003051.1:p.Leu273His
NM_001308122.2:c.890T>A	NP_001295051.1:p.Leu297His