Canonical Allele Identifier: CA119335
Gene: DAZL HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.16598169T>C
GRCh37 chr3:g.16639676T>C
Revel Score:
ENST00000250863 0.045
ENST00000399444 (MANE Select) 0.045
ENST00000454457 0.045
ClinVar RCV:
RCV000008622
ClinVar Variation:
8145
dbSNP:
121918346
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.16598169T>C , CM000665.2:g.16598169T>C GRCh38
NC_000003.11:g.16639676T>C , CM000665.1:g.16639676T>C GRCh37
NC_000003.10:g.16614680T>C NCBI36
NG_023329.1:g.12331A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000399444.7:c.160A>G MANE Select ENSP00000382373.3:p.Thr54Ala
ENST00000250863.12:c.220A>G ENSP00000250863.8:p.Thr74Ala
ENST00000399444.6:c.160A>G ENSP00000382373.2:p.Thr54Ala
ENST00000454457.1:c.274A>G ENSP00000398109.1:p.Thr92Ala
NM_001190811.1:c.220A>G NP_001177740.1:p.Thr74Ala
NM_001351.3:c.160A>G NP_001342.2:p.Thr54Ala
NM_001351.4:c.160A>G MANE Select NP_001342.2:p.Thr54Ala
NM_001190811.2:c.220A>G NP_001177740.1:p.Thr74Ala
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