Canonical Allele Identifier: CA366949106
Gene: DNAH11 HGNC NCBI

Linked Data

gnomAD v4: 7-21816669-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21816669T>C , CM000669.2:g.21816669T>C GRCh38
NC_000007.13:g.21856287T>C , CM000669.1:g.21856287T>C GRCh37
NC_000007.12:g.21822812T>C NCBI36
NG_012886.2:g.278455T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.10535T>C MANE Select ENSP00000475939.1:p.Met3512Thr
ENST00000328843.10:c.10556T>C ENSP00000330671.7:p.Met3519Thr
ENST00000409508.7:c.10535T>C ENSP00000475939.1:p.Met3512Thr
ENST00000620169.4:c.10556T>C ENSP00000481693.1:p.Met3519Thr
NM_001277115.1:c.10535T>C NP_001264044.1:p.Met3512Thr
NM_001277115.2:c.10535T>C MANE Select NP_001264044.1:p.Met3512Thr