Canonical Allele Identifier: CA2755363357
Gene: DAZL HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.16598071T>C , CM000665.2:g.16598071T>C GRCh38
NC_000003.11:g.16639578T>C , CM000665.1:g.16639578T>C GRCh37
NC_000003.10:g.16614582T>C NCBI36
NG_023329.1:g.12429A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000399444.7:c.242+16A>G MANE Select ENSP00000382373.3:n.242+16A>G
ENST00000250863.12:c.302+16A>G ENSP00000250863.8:n.302+16A>G
ENST00000399444.6:c.242+16A>G ENSP00000382373.2:n.242+16A>G
ENST00000454457.1:c.356+16A>G ENSP00000398109.1:n.356+16A>G
NM_001190811.1:c.302+16A>G NP_001177740.1:n.302+16A>G
NM_001351.3:c.242+16A>G NP_001342.2:n.242+16A>G
NM_001351.4:c.242+16A>G MANE Select NP_001342.2:n.242+16A>G
NM_001190811.2:c.302+16A>G NP_001177740.1:n.302+16A>G
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