Canonical Allele Identifier: CA339975654

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.43451268A>T , CM000663.2:g.43451268A>T GRCh38
NC_000001.10:g.43916939A>T , CM000663.1:g.43916939A>T GRCh37
NC_000001.9:g.43689526A>T NCBI36
NG_029091.1:g.66384A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000372430.9:c.804T>A (HYI) MANE Select ENSP00000361507.4:p.Asp268Glu
ENST00000562955.2:c.*788A>T (SZT2) ENSP00000457168.1:n.*788A>T
ENST00000634258.3:c.*788A>T (SZT2) MANE Select ENSP00000489255.1:n.*788A>T
ENST00000372425.8:c.804T>A (HYI) ENSP00000361502.4:p.Asp268Glu
ENST00000372427.5:n.2065T>A (HYI)
ENST00000372430.7:c.686T>A (HYI)
ENST00000372432.5:c.*42T>A (HYI) ENSP00000361509.1:n.*42T>A
ENST00000372433.5:c.682T>A (HYI)
ENST00000372434.5:c.879T>A (HYI) ENSP00000361511.1:p.Asp293Glu
ENST00000460536.1:n.2904A>T (SZT2)
ENST00000470662.5:c.530T>A (HYI)
ENST00000483618.1:n.370T>A (HYI)
ENST00000487366.5:c.527T>A (HYI)
ENST00000562955.1:c.10916A>T (SZT2) ENSP00000457168.1:n.10916A>T
ENST00000583037.5:c.*42T>A (HYI) ENSP00000461969.2:n.*42T>A
NM_001190880.2:c.804T>A (HYI) NP_001177809.1:p.Asp268Glu
NM_001243526.1:c.*42T>A (HYI) NP_001230455.1:n.*42T>A
NM_015284.3:c.*788A>T (SZT2) NP_056099.3:n.*788A>T
NM_031207.5:c.*42T>A (HYI) NP_112484.3:n.*42T>A
XM_005271239.3:c.879T>A (HYI) XP_005271296.1:p.Asp293Glu
XM_005271240.3:c.777T>A (HYI) XP_005271297.1:p.Asp259Glu
XM_006710937.2:c.817+160T>A (HYI) XP_006711000.1:n.817+160T>A
XM_011542222.1:c.*42T>A (HYI) XP_011540524.1:n.*42T>A
NM_001330526.1:c.879T>A (HYI) NP_001317455.1:p.Asp293Glu
NM_001365999.1:c.*788A>T (SZT2) MANE Select NP_001352928.1:n.*788A>T
XM_005271240.5:c.777T>A (HYI) XP_005271297.1:p.Asp259Glu
XM_006710937.3:c.817+160T>A (HYI) XP_006711000.1:n.817+160T>A
XM_011542222.3:c.*42T>A (HYI) XP_011540524.1:n.*42T>A
NM_001330526.2:c.879T>A (HYI) NP_001317455.1:p.Asp293Glu
NM_015284.4:c.*788A>T (SZT2) NP_056099.3:n.*788A>T
NM_031207.6:c.*42T>A (HYI) NP_112484.3:n.*42T>A
NM_001190880.3:c.804T>A (HYI) MANE Select NP_001177809.1:p.Asp268Glu
NM_001243526.2:c.*42T>A (HYI) NP_001230455.1:n.*42T>A