Canonical Allele Identifier: CA366932434
Gene: DNAH11 HGNC NCBI

Linked Data

gnomAD v4: 7-21558889-A-C
MyVariant Identifiers: chr7:g.21598507A>C (hg19) chr7:g.21558889A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21558889A>C , CM000669.2:g.21558889A>C GRCh38
NC_000007.13:g.21598507A>C , CM000669.1:g.21598507A>C GRCh37
NC_000007.12:g.21565032A>C NCBI36
NG_012886.2:g.20675A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000409508.8:c.583A>C MANE Select ENSP00000475939.1:p.Met195Leu
ENST00000328843.10:c.583A>C ENSP00000330671.7:p.Met195Leu
ENST00000409508.7:c.583A>C ENSP00000475939.1:p.Met195Leu
ENST00000620169.4:c.583A>C ENSP00000481693.1:p.Met195Leu
NM_001277115.1:c.583A>C NP_001264044.1:p.Met195Leu
NM_001277115.2:c.583A>C MANE Select NP_001264044.1:p.Met195Leu
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