Canonical Allele Identifier: CA366931146
Gene: DNAH11 HGNC NCBI

Linked Data

gnomAD v4: 7-21543351-G-T
MyVariant Identifiers: chr7:g.21582969G>T (hg19) chr7:g.21543351G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21543351G>T , CM000669.2:g.21543351G>T GRCh38
NC_000007.13:g.21582969G>T , CM000669.1:g.21582969G>T GRCh37
NC_000007.12:g.21549494G>T NCBI36
NG_012886.2:g.5137G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000409508.8:c.106G>T MANE Select ENSP00000475939.1:p.Glu36Ter
ENST00000328843.10:c.106G>T ENSP00000330671.7:p.Glu36Ter
ENST00000409508.7:c.106G>T ENSP00000475939.1:p.Glu36Ter
ENST00000620169.4:c.106G>T ENSP00000481693.1:p.Glu36Ter
NM_001277115.1:c.106G>T NP_001264044.1:p.Glu36Ter
NM_001277115.2:c.106G>T MANE Select NP_001264044.1:p.Glu36Ter
Search 100 bp 5'
Search 100 bp 3'