Canonical Allele Identifier: CA360805117

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131721107C>T (hg19) ; chr5:g.132385415C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385415C>T , CM000667.2:g.132385415C>T	GRCh38
NC_000005.9:g.131721107C>T , CM000667.1:g.131721107C>T	GRCh37
NC_000005.8:g.131749006C>T	NCBI36
NG_008982.1:g.20707C>T
NG_008982.2:g.20712C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.665+1101C>T	ENSP00000388838.2:n.665+1101C>T
ENST00000435065.7:c.812C>T	ENSP00000402760.2:p.Pro271Leu
ENST00000448810.6:c.740C>T	ENSP00000401860.2:p.Pro247Leu
ENST00000686757.1:c.759C>T	ENSP00000510721.1:p.Ala253=
ENST00000687740.1:n.1900C>T
ENST00000688151.1:n.1932C>T
ENST00000689271.1:c.671+1095C>T	ENSP00000510797.1:n.671+1095C>T
ENST00000690900.1:c.711C>T	ENSP00000510703.1:p.Ala237=
ENST00000692212.1:n.566C>T
ENST00000692355.1:c.204+1114C>T
ENST00000692413.1:c.759C>T	ENSP00000509374.1:p.Ala253=
ENST00000692825.1:c.808C>T	ENSP00000509447.1:n.808C>T
ENST00000693308.1:c.753C>T	ENSP00000509770.1:p.Ala251=
ENST00000693763.1:n.1900C>T
ENST00000245407.8:c.740C>T MANE Select	ENSP00000245407.3:p.Pro247Leu
ENST00000245407.7:c.740C>T	ENSP00000245407.3:p.Pro247Leu
ENST00000415928.5:c.509C>T	ENSP00000388838.1:p.Pro170Leu
ENST00000435065.6:c.812C>T	ENSP00000402760.2:p.Pro271Leu
ENST00000437841.6:c.*55C>T	ENSP00000400553.1:n.*55C>T
ENST00000448810.5:c.88C>T
ENST00000461013.5:n.8162C>T
NM_001308122.1:c.812C>T	NP_001295051.1:p.Pro271Leu
NM_003060.3:c.740C>T	NP_003051.1:p.Pro247Leu
XM_011543590.1:c.122C>T	XP_011541892.1:p.Pro41Leu
XR_427718.1:n.1100C>T
XR_948290.1:n.1081C>T
XR_948291.1:n.1094C>T
XM_011543590.2:c.122C>T	XP_011541892.1:p.Pro41Leu
XM_017009778.2:c.212C>T	XP_016865267.1:p.Pro71Leu
XR_001742215.1:n.1081C>T
XR_001742216.1:n.1100C>T
XR_427718.2:n.1100C>T
XR_948290.2:n.1081C>T
XR_948291.2:n.1094C>T
NM_003060.4:c.740C>T MANE Select	NP_003051.1:p.Pro247Leu
NM_001308122.2:c.812C>T	NP_001295051.1:p.Pro271Leu