Canonical Allele Identifier: CA3202182

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 351046
• ClinVar RCV Id: RCV000291711 ; RCV003535692
• dbSNP Id: rs754992743
• ExAC: 5:13753673 A / G
• gnomAD v2: 5-13753673-A-G
• gnomAD v4: 5-13753564-A-G
• MyVariant Identifiers: chr5:g.13753673A>G (hg19) ; chr5:g.13753564A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13753564A>G , CM000667.2:g.13753564A>G	GRCh38
NC_000005.9:g.13753673A>G , CM000667.1:g.13753673A>G	GRCh37
NC_000005.8:g.13806673A>G	NCBI36
NG_013081.1:g.195917T>C
NG_013081.2:g.195917T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10556-15T>C MANE Select	ENSP00000265104.4:n.10556-15T>C
ENST00000681290.1:c.10511-15T>C	ENSP00000505288.1:n.10511-15T>C
ENST00000265104.4:c.10556-15T>C	ENSP00000265104.4:n.10556-15T>C
NM_001369.2:c.10556-15T>C	NP_001360.1:n.10556-15T>C
XM_005248262.2:c.10511-15T>C	XP_005248319.1:n.10511-15T>C
XM_005248262.3:c.10664-15T>C	XP_005248319.2:n.10664-15T>C
XM_017009177.1:c.10664-15T>C	XP_016864666.1:n.10664-15T>C
XM_017009178.1:c.9569-15T>C	XP_016864667.1:n.9569-15T>C
XM_017009179.2:c.9569-15T>C	XP_016864668.1:n.9569-15T>C
XM_017009180.1:c.10664-15T>C	XP_016864669.1:n.10664-15T>C
XM_017009181.1:c.10664-15T>C	XP_016864670.1:n.10664-15T>C
XM_017009182.1:c.10664-15T>C	XP_016864671.1:n.10664-15T>C
XM_017009185.1:c.5753-15T>C	XP_016864674.1:n.5753-15T>C
XM_017009186.1:c.5306-15T>C	XP_016864675.1:n.5306-15T>C
XM_017009188.1:c.4643-15T>C	XP_016864677.1:n.4643-15T>C
XM_024454388.1:c.9569-15T>C	XP_024310156.1:n.9569-15T>C
XM_024454389.1:c.9158-15T>C	XP_024310157.1:n.9158-15T>C
NM_001369.3:c.10556-15T>C MANE Select	NP_001360.1:n.10556-15T>C