Canonical Allele Identifier: CA1730703548

Gene: SLC26A5

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.103374478A= , CM000669.2:g.103374478A=	GRCh38
NC_000007.13:g.103014925A= , CM000669.1:g.103014925A=	GRCh37
NC_000007.12:g.102802161A=	NCBI36
NG_023055.1:g.76700T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306312.8:c.2156T= MANE Select	ENSP00000304783.3:p.Leu719=
ENST00000306312.7:c.2156T=	ENSP00000304783.3:p.Leu719=
ENST00000339444.10:c.2041+2330T=	ENSP00000342396.6:n.2041+2330T=
ENST00000354356.8:c.2162T=	ENSP00000346325.5:p.Leu721=
ENST00000356767.8:c.972-21552T=	ENSP00000349210.4:n.972-21552T=
ENST00000393723.2:c.2066T=	ENSP00000377324.1:p.Leu689=
ENST00000393727.5:c.2162T=	ENSP00000377328.1:p.Leu721=
ENST00000393729.5:c.2045T=	ENSP00000377330.1:p.Leu682=
ENST00000393730.5:c.2060T=	ENSP00000377331.1:p.Leu687=
ENST00000393735.6:c.1514+14530T=	ENSP00000377336.2:n.1514+14530T=
ENST00000423416.5:c.*568T=	ENSP00000389018.1:n.*568T=
ENST00000432958.6:c.2060T=	ENSP00000389733.2:p.Leu687=
ENST00000445809.5:c.*1139T=	ENSP00000396833.1:n.*1139T=
ENST00000454864.5:c.*460T=	ENSP00000416502.1:n.*460T=
ENST00000456463.5:c.*1357T=	ENSP00000395568.1:n.*1357T=
NM_001167962.1:c.2060T=	NP_001161434.1:p.Leu687=
NM_198999.2:c.2156T=	NP_945350.1:p.Leu719=
NM_206883.2:c.2041+2330T=	NP_996766.1:n.2041+2330T=
NM_206884.2:c.1514+14530T=	NP_996767.1:n.1514+14530T=
NM_206885.2:c.972-21552T=	NP_996768.1:n.972-21552T=
NR_120441.1:n.2172T=
NR_120442.1:n.2068T=
NR_120443.1:n.1986T=
XM_011516170.1:c.2156T=	XP_011514472.1:p.Leu719=
NM_001321787.1:c.1945+2330T=	NP_001308716.1:n.1945+2330T=
NR_135801.1:n.2174T=
NR_135802.1:n.2137+2330T=
XM_011516170.3:c.2156T=	XP_011514472.1:p.Leu719=
XR_001744725.2:n.2348T=
XR_001744726.1:n.3023+2330T=
XR_001744727.2:n.2252T=
NM_001321787.2:c.1945+2330T=	NP_001308716.1:n.1945+2330T=
NM_198999.3:c.2156T= MANE Select	NP_945350.1:p.Leu719=
NM_206883.3:c.2041+2330T=	NP_996766.1:n.2041+2330T=
NM_206884.3:c.1514+14530T=	NP_996767.1:n.1514+14530T=
NM_206885.3:c.972-21552T=	NP_996768.1:n.972-21552T=
NR_135802.2:n.2167+2330T=
NM_001167962.2:c.2060T=	NP_001161434.1:p.Leu687=
NR_135801.2:n.2204T=