Canonical Allele Identifier: CA3205215

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 258016
• ClinVar RCV Id: RCV000244963 ; RCV000344003 ; RCV000514353 ; RCV001094959
• dbSNP Id: rs144236383
• ExAC: 5:13923528 C / G
• gnomAD v2: 5-13923528-C-G
• gnomAD v3: 5-13923419-C-G
• gnomAD v4: 5-13923419-C-G
• MyVariant Identifiers: chr5:g.13923528C>G (hg19) ; chr5:g.13923419C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13923419C>G , CM000667.2:g.13923419C>G	GRCh38
NC_000005.9:g.13923528C>G , CM000667.1:g.13923528C>G	GRCh37
NC_000005.8:g.13976528C>G	NCBI36
NG_013081.1:g.26062G>C
NG_013081.2:g.26062G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000680213.2:n.355G>C
ENST00000682376.1:n.343G>C
ENST00000682586.1:n.343G>C
ENST00000683011.1:n.333G>C
ENST00000683967.1:n.349G>C
ENST00000684013.1:n.349G>C
ENST00000684099.1:n.394G>C
ENST00000265104.5:c.299G>C MANE Select	ENSP00000265104.4:p.Gly100Ala
ENST00000680213.1:c.59G>C	ENSP00000506622.1:p.Gly20Ala
ENST00000681290.1:c.254G>C	ENSP00000505288.1:p.Gly85Ala
ENST00000265104.4:c.299G>C	ENSP00000265104.4:p.Gly100Ala
ENST00000508040.1:n.658G>C
NM_001369.2:c.299G>C	NP_001360.1:p.Gly100Ala
XM_005248262.2:c.254G>C	XP_005248319.1:p.Gly85Ala
XM_011513990.1:c.299G>C	XP_011512292.1:p.Gly100Ala
XR_925598.1:n.506G>C
XM_005248262.3:c.407G>C	XP_005248319.2:p.Gly136Ala
XM_017009177.1:c.407G>C	XP_016864666.1:p.Gly136Ala
XM_017009178.1:c.-738G>C	XP_016864667.1:n.-738G>C
XM_017009180.1:c.407G>C	XP_016864669.1:p.Gly136Ala
XM_017009181.1:c.407G>C	XP_016864670.1:p.Gly136Ala
XM_017009182.1:c.407G>C	XP_016864671.1:p.Gly136Ala
XM_017009183.1:c.407G>C	XP_016864672.1:p.Gly136Ala
XM_017009184.1:c.407G>C	XP_016864673.1:p.Gly136Ala
XM_017009187.1:c.407G>C	XP_016864676.1:p.Gly136Ala
XM_024454388.1:c.-2608G>C	XP_024310156.1:n.-2608G>C
XM_024454389.1:c.-1661G>C	XP_024310157.1:n.-1661G>C
XR_001742034.1:n.424G>C
XR_001742035.1:n.424G>C
NM_001369.3:c.299G>C MANE Select	NP_001360.1:p.Gly100Ala