Canonical Allele Identifier: CA1730703571

Gene: SLC26A5

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.103374549A= , CM000669.2:g.103374549A=	GRCh38
NC_000007.13:g.103014996A= , CM000669.1:g.103014996A=	GRCh37
NC_000007.12:g.102802232A=	NCBI36
NG_023055.1:g.76629T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306312.8:c.2085T= MANE Select	ENSP00000304783.3:p.Asn695=
ENST00000306312.7:c.2085T=	ENSP00000304783.3:p.Asn695=
ENST00000339444.10:c.2041+2259T=	ENSP00000342396.6:n.2041+2259T=
ENST00000354356.8:c.2091T=	ENSP00000346325.5:p.Asn697=
ENST00000356767.8:c.972-21623T=	ENSP00000349210.4:n.972-21623T=
ENST00000393723.2:c.1995T=	ENSP00000377324.1:p.Asn665=
ENST00000393727.5:c.2091T=	ENSP00000377328.1:p.Asn697=
ENST00000393729.5:c.1974T=	ENSP00000377330.1:p.Asn658=
ENST00000393730.5:c.1989T=	ENSP00000377331.1:p.Asn663=
ENST00000393735.6:c.1514+14459T=	ENSP00000377336.2:n.1514+14459T=
ENST00000423416.5:c.*497T=	ENSP00000389018.1:n.*497T=
ENST00000432958.6:c.1989T=	ENSP00000389733.2:p.Asn663=
ENST00000445809.5:c.*1068T=	ENSP00000396833.1:n.*1068T=
ENST00000454864.5:c.*389T=	ENSP00000416502.1:n.*389T=
ENST00000456463.5:c.*1286T=	ENSP00000395568.1:n.*1286T=
NM_001167962.1:c.1989T=	NP_001161434.1:p.Asn663=
NM_198999.2:c.2085T=	NP_945350.1:p.Asn695=
NM_206883.2:c.2041+2259T=	NP_996766.1:n.2041+2259T=
NM_206884.2:c.1514+14459T=	NP_996767.1:n.1514+14459T=
NM_206885.2:c.972-21623T=	NP_996768.1:n.972-21623T=
NR_120441.1:n.2101T=
NR_120442.1:n.1997T=
NR_120443.1:n.1915T=
XM_011516170.1:c.2085T=	XP_011514472.1:p.Asn695=
NM_001321787.1:c.1945+2259T=	NP_001308716.1:n.1945+2259T=
NR_135801.1:n.2103T=
NR_135802.1:n.2137+2259T=
XM_011516170.3:c.2085T=	XP_011514472.1:p.Asn695=
XR_001744725.2:n.2277T=
XR_001744726.1:n.3023+2259T=
XR_001744727.2:n.2181T=
NM_001321787.2:c.1945+2259T=	NP_001308716.1:n.1945+2259T=
NM_198999.3:c.2085T= MANE Select	NP_945350.1:p.Asn695=
NM_206883.3:c.2041+2259T=	NP_996766.1:n.2041+2259T=
NM_206884.3:c.1514+14459T=	NP_996767.1:n.1514+14459T=
NM_206885.3:c.972-21623T=	NP_996768.1:n.972-21623T=
NR_135802.2:n.2167+2259T=
NM_001167962.2:c.1989T=	NP_001161434.1:p.Asn663=
NR_135801.2:n.2133T=