Canonical Allele Identifier: CA127213251

Gene: SLC22A5

Linked Data

• dbSNP Id: rs767208303
• gnomAD v4: 5-132394201-A-T
• MyVariant Identifiers: chr5:g.131729893A>T (hg19) ; chr5:g.132394201A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132394201A>T , CM000667.2:g.132394201A>T	GRCh38
NC_000005.9:g.131729893A>T , CM000667.1:g.131729893A>T	GRCh37
NC_000005.8:g.131757792A>T	NCBI36
NG_008982.1:g.29493A>T
NG_008982.2:g.29498A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.*12A>T	ENSP00000388838.2:n.*12A>T
ENST00000435065.7:c.1675A>T	ENSP00000402760.2:p.Thr559Ser
ENST00000448810.6:c.*455A>T	ENSP00000401860.2:n.*455A>T
ENST00000685543.1:n.1744A>T
ENST00000686757.1:c.*767A>T	ENSP00000510721.1:n.*767A>T
ENST00000686868.1:n.595A>T
ENST00000687740.1:n.4288A>T
ENST00000688151.1:n.2913A>T
ENST00000689271.1:c.1450A>T	ENSP00000510797.1:p.Thr484Ser
ENST00000690900.1:c.*767A>T	ENSP00000510703.1:n.*767A>T
ENST00000692212.1:n.4743A>T
ENST00000692355.1:c.856A>T
ENST00000692413.1:c.1585A>T	ENSP00000509374.1:p.Thr529Ser
ENST00000692825.1:c.1671A>T	ENSP00000509447.1:n.1671A>T
ENST00000693308.1:c.1651A>T	ENSP00000509770.1:p.Thr551Ser
ENST00000693763.1:n.2763A>T
ENST00000245407.8:c.1603A>T MANE Select	ENSP00000245407.3:p.Thr535Ser
ENST00000245407.7:c.1603A>T	ENSP00000245407.3:p.Thr535Ser
ENST00000435065.6:c.1675A>T	ENSP00000402760.2:p.Thr559Ser
ENST00000447841.5:c.447A>T
ENST00000461013.5:n.9025A>T
ENST00000475308.1:n.2281A>T
NM_001308122.1:c.1675A>T	NP_001295051.1:p.Thr559Ser
NM_003060.3:c.1603A>T	NP_003051.1:p.Thr535Ser
XM_011543590.1:c.985A>T	XP_011541892.1:p.Thr329Ser
XR_948290.1:n.1729A>T
XM_011543590.2:c.985A>T	XP_011541892.1:p.Thr329Ser
XM_017009778.2:c.1075A>T	XP_016865267.1:p.Thr359Ser
XR_001742215.1:n.1858A>T
XR_001742216.1:n.1877A>T
XR_427718.2:n.1963A>T
XR_948290.2:n.1729A>T
XR_948291.2:n.1957A>T
NM_003060.4:c.1603A>T MANE Select	NP_003051.1:p.Thr535Ser
NM_001308122.2:c.1675A>T	NP_001295051.1:p.Thr559Ser