Canonical Allele Identifier: CA359202206

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 1514797
• ClinVar RCV Id: RCV002029562
• dbSNP Id: rs2126776737
• MyVariant Identifiers: chr5:g.13769202A>C (hg19) ; chr5:g.13769093A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13769093A>C , CM000667.2:g.13769093A>C	GRCh38
NC_000005.9:g.13769202A>C , CM000667.1:g.13769202A>C	GRCh37
NC_000005.8:g.13822202A>C	NCBI36
NG_013081.1:g.180388T>G
NG_013081.2:g.180388T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9764T>G MANE Select	ENSP00000265104.4:p.Val3255Gly
ENST00000681290.1:c.9719T>G	ENSP00000505288.1:p.Val3240Gly
ENST00000265104.4:c.9764T>G	ENSP00000265104.4:p.Val3255Gly
ENST00000504001.3:n.476T>G
NM_001369.2:c.9764T>G	NP_001360.1:p.Val3255Gly
XM_005248262.2:c.9719T>G	XP_005248319.1:p.Val3240Gly
XM_005248262.3:c.9872T>G	XP_005248319.2:p.Val3291Gly
XM_017009177.1:c.9872T>G	XP_016864666.1:p.Val3291Gly
XM_017009178.1:c.8777T>G	XP_016864667.1:p.Val2926Gly
XM_017009179.2:c.8777T>G	XP_016864668.1:p.Val2926Gly
XM_017009180.1:c.9872T>G	XP_016864669.1:p.Val3291Gly
XM_017009181.1:c.9872T>G	XP_016864670.1:p.Val3291Gly
XM_017009182.1:c.9872T>G	XP_016864671.1:p.Val3291Gly
XM_017009185.1:c.4961T>G	XP_016864674.1:p.Val1654Gly
XM_017009186.1:c.4514T>G	XP_016864675.1:p.Val1505Gly
XM_017009188.1:c.3851T>G	XP_016864677.1:p.Val1284Gly
XM_024454388.1:c.8777T>G	XP_024310156.1:p.Val2926Gly
XM_024454389.1:c.8366T>G	XP_024310157.1:p.Val2789Gly
NM_001369.3:c.9764T>G MANE Select	NP_001360.1:p.Val3255Gly