Canonical Allele Identifier: CA366964186
Gene: DNAH11 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21880861G>C , CM000669.2:g.21880861G>C GRCh38
NC_000007.13:g.21920479G>C , CM000669.1:g.21920479G>C GRCh37
NC_000007.12:g.21887004G>C NCBI36
NG_012886.2:g.342647G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.12355G>C MANE Select ENSP00000475939.1:p.Val4119Leu
ENST00000328843.10:c.12376G>C ENSP00000330671.7:p.Val4126Leu
ENST00000409508.7:c.12355G>C ENSP00000475939.1:p.Val4119Leu
ENST00000620169.4:c.12376G>C ENSP00000481693.1:p.Val4126Leu
NM_001277115.1:c.12355G>C NP_001264044.1:p.Val4119Leu
NM_001277115.2:c.12355G>C MANE Select NP_001264044.1:p.Val4119Leu