Canonical Allele Identifier: CA4419441

Gene: SLC26A5

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.103379262C>T , CM000669.2:g.103379262C>T	GRCh38
NC_000007.13:g.103019709C>T , CM000669.1:g.103019709C>T	GRCh37
NC_000007.12:g.102806945C>T	NCBI36
NG_023055.1:g.71916G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306312.8:c.1658G>A MANE Select	ENSP00000304783.3:p.Ser553Asn
ENST00000306312.7:c.1658G>A	ENSP00000304783.3:p.Ser553Asn
ENST00000339444.10:c.1658G>A	ENSP00000342396.6:p.Ser553Asn
ENST00000354356.8:c.1658G>A	ENSP00000346325.5:p.Ser553Asn
ENST00000356767.8:c.971+18670G>A	ENSP00000349210.4:n.971+18670G>A
ENST00000393723.2:c.1562G>A	ENSP00000377324.1:p.Ser521Asn
ENST00000393727.5:c.1658G>A	ENSP00000377328.1:p.Ser553Asn
ENST00000393729.5:c.1547G>A	ENSP00000377330.1:p.Ser516Asn
ENST00000393730.5:c.1562G>A	ENSP00000377331.1:p.Ser521Asn
ENST00000393735.6:c.1514+9746G>A	ENSP00000377336.2:n.1514+9746G>A
ENST00000423416.5:c.*70G>A	ENSP00000389018.1:n.*70G>A
ENST00000432958.6:c.1562G>A	ENSP00000389733.2:p.Ser521Asn
ENST00000445809.5:c.*641G>A	ENSP00000396833.1:n.*641G>A
ENST00000454864.5:c.*70G>A	ENSP00000416502.1:n.*70G>A
ENST00000456463.5:c.*859G>A	ENSP00000395568.1:n.*859G>A
NM_001167962.1:c.1562G>A	NP_001161434.1:p.Ser521Asn
NM_198999.2:c.1658G>A	NP_945350.1:p.Ser553Asn
NM_206883.2:c.1658G>A	NP_996766.1:p.Ser553Asn
NM_206884.2:c.1514+9746G>A	NP_996767.1:n.1514+9746G>A
NM_206885.2:c.971+18670G>A	NP_996768.1:n.971+18670G>A
NR_120441.1:n.1674G>A
NR_120442.1:n.1570G>A
NR_120443.1:n.1596G>A
XM_011516170.1:c.1658G>A	XP_011514472.1:p.Ser553Asn
NM_001321787.1:c.1562G>A	NP_001308716.1:p.Ser521Asn
NR_135801.1:n.1676G>A
NR_135802.1:n.1754G>A
XM_011516170.3:c.1658G>A	XP_011514472.1:p.Ser553Asn
XR_001744725.2:n.1850G>A
XR_001744726.1:n.2640G>A
XR_001744727.2:n.1754G>A
NM_001321787.2:c.1562G>A	NP_001308716.1:p.Ser521Asn
NM_198999.3:c.1658G>A MANE Select	NP_945350.1:p.Ser553Asn
NM_206883.3:c.1658G>A	NP_996766.1:p.Ser553Asn
NM_206884.3:c.1514+9746G>A	NP_996767.1:n.1514+9746G>A
NM_206885.3:c.971+18670G>A	NP_996768.1:n.971+18670G>A
NR_135802.2:n.1784G>A
NM_001167962.2:c.1562G>A	NP_001161434.1:p.Ser521Asn
NR_135801.2:n.1706G>A