Canonical Allele Identifier: CA353115419

Gene: DNAH1

Linked Data

• dbSNP Id: rs1251476126
• gnomAD v2: 3-52387626-G-C
• gnomAD v4: 3-52353610-G-C
• MyVariant Identifiers: chr3:g.52387626G>C (hg19) ; chr3:g.52353610G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52353610G>C , CM000665.2:g.52353610G>C	GRCh38
NC_000003.11:g.52387626G>C , CM000665.1:g.52387626G>C	GRCh37
NC_000003.10:g.52362666G>C	NCBI36
NG_052911.1:g.42292G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000420323.7:c.3457G>C MANE Select	ENSP00000401514.2:p.Gly1153Arg
ENST00000420323.6:c.3457G>C	ENSP00000401514.2:p.Gly1153Arg
ENST00000486752.5:n.3718G>C
ENST00000497875.1:n.3622G>C
NM_015512.4:c.3457G>C	NP_056327.4:p.Gly1153Arg
XM_011533577.1:c.3457G>C	XP_011531879.1:p.Gly1153Arg
XM_017006129.1:c.3457G>C	XP_016861618.1:p.Gly1153Arg
XM_017006130.1:c.3457G>C	XP_016861619.1:p.Gly1153Arg
XM_017006131.1:c.3457G>C	XP_016861620.1:p.Gly1153Arg
XM_017006132.1:c.3457G>C	XP_016861621.1:p.Gly1153Arg
XM_017006133.1:c.3457G>C	XP_016861622.1:p.Gly1153Arg
XR_001740098.1:n.6606G>C
XR_001740099.1:n.6606G>C
NM_015512.5:c.3457G>C MANE Select	NP_056327.4:p.Gly1153Arg