Canonical Allele Identifier: CA366932482
Gene: DNAH11 HGNC NCBI

Linked Data

ClinVar Variation Id: 2843107
ClinVar RCV Id: RCV003652440
dbSNP Id: rs1489686376
MyVariant Identifiers: chr7:g.21598524T>A (hg19) chr7:g.21558906T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21558906T>A , CM000669.2:g.21558906T>A GRCh38
NC_000007.13:g.21598524T>A , CM000669.1:g.21598524T>A GRCh37
NC_000007.12:g.21565049T>A NCBI36
NG_012886.2:g.20692T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.600T>A MANE Select ENSP00000475939.1:p.Tyr200Ter
ENST00000328843.10:c.600T>A ENSP00000330671.7:p.Tyr200Ter
ENST00000409508.7:c.600T>A ENSP00000475939.1:p.Tyr200Ter
ENST00000620169.4:c.600T>A ENSP00000481693.1:p.Tyr200Ter
NM_001277115.1:c.600T>A NP_001264044.1:p.Tyr200Ter
NM_001277115.2:c.600T>A MANE Select NP_001264044.1:p.Tyr200Ter
Search 100 bp 5'
Search 100 bp 3'