Canonical Allele Identifier: CA360809594

Gene: SLC22A5

Linked Data

• gnomAD v4: 5-132393684-G-T
• MyVariant Identifiers: chr5:g.131729376G>T (hg19) ; chr5:g.132393684G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132393684G>T , CM000667.2:g.132393684G>T	GRCh38
NC_000005.9:g.131729376G>T , CM000667.1:g.131729376G>T	GRCh37
NC_000005.8:g.131757275G>T	NCBI36
NG_008982.1:g.28976G>T
NG_008982.2:g.28981G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-501G>T	ENSP00000388838.2:n.1292-501G>T
ENST00000435065.7:c.1531G>T	ENSP00000402760.2:p.Asp511Tyr
ENST00000448810.6:c.*311G>T	ENSP00000401860.2:n.*311G>T
ENST00000685543.1:n.1600G>T
ENST00000686757.1:c.*623G>T	ENSP00000510721.1:n.*623G>T
ENST00000686868.1:n.451G>T
ENST00000687740.1:n.4144G>T
ENST00000688151.1:n.2769G>T
ENST00000689271.1:c.1306G>T	ENSP00000510797.1:p.Asp436Tyr
ENST00000690900.1:c.*623G>T	ENSP00000510703.1:n.*623G>T
ENST00000692212.1:n.4599G>T
ENST00000692355.1:c.712G>T
ENST00000692413.1:c.1441G>T	ENSP00000509374.1:p.Asp481Tyr
ENST00000692825.1:c.1527G>T	ENSP00000509447.1:n.1527G>T
ENST00000693308.1:c.1507G>T	ENSP00000509770.1:p.Asp503Tyr
ENST00000693763.1:n.2619G>T
ENST00000245407.8:c.1459G>T MANE Select	ENSP00000245407.3:p.Asp487Tyr
ENST00000245407.7:c.1459G>T	ENSP00000245407.3:p.Asp487Tyr
ENST00000435065.6:c.1531G>T	ENSP00000402760.2:p.Asp511Tyr
ENST00000447841.5:c.303G>T
ENST00000448810.5:c.721G>T
ENST00000461013.5:n.8881G>T
ENST00000475308.1:n.2137G>T
NM_001308122.1:c.1531G>T	NP_001295051.1:p.Asp511Tyr
NM_003060.3:c.1459G>T	NP_003051.1:p.Asp487Tyr
XM_011543590.1:c.841G>T	XP_011541892.1:p.Asp281Tyr
XR_948290.1:n.1585G>T
XM_011543590.2:c.841G>T	XP_011541892.1:p.Asp281Tyr
XM_017009778.2:c.931G>T	XP_016865267.1:p.Asp311Tyr
XR_001742215.1:n.1714G>T
XR_001742216.1:n.1733G>T
XR_427718.2:n.1819G>T
XR_948290.2:n.1585G>T
XR_948291.2:n.1813G>T
NM_003060.4:c.1459G>T MANE Select	NP_003051.1:p.Asp487Tyr
NM_001308122.2:c.1531G>T	NP_001295051.1:p.Asp511Tyr