Canonical Allele Identifier: CA113920683

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 1534886
• ClinVar RCV Id: RCV002089917
• dbSNP Id: rs746003819
• gnomAD v2: 5-13721130-G-C
• gnomAD v3: 5-13721021-G-C
• gnomAD v4: 5-13721021-G-C
• MyVariant Identifiers: chr5:g.13721130G>C (hg19) ; chr5:g.13721021G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13721021G>C , CM000667.2:g.13721021G>C	GRCh38
NC_000005.9:g.13721130G>C , CM000667.1:g.13721130G>C	GRCh37
NC_000005.8:g.13774130G>C	NCBI36
NG_013081.1:g.228460C>G
NG_013081.2:g.228460C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.12258C>G MANE Select	ENSP00000265104.4:p.Leu4086=
ENST00000681290.1:c.12213C>G	ENSP00000505288.1:p.Leu4071=
ENST00000265104.4:c.12258C>G	ENSP00000265104.4:p.Leu4086=
NM_001369.2:c.12258C>G	NP_001360.1:p.Leu4086=
XM_005248262.2:c.12213C>G	XP_005248319.1:p.Leu4071=
XM_005248262.3:c.12366C>G	XP_005248319.2:p.Leu4122=
XM_017009177.1:c.12366C>G	XP_016864666.1:p.Leu4122=
XM_017009178.1:c.11271C>G	XP_016864667.1:p.Leu3757=
XM_017009179.2:c.11271C>G	XP_016864668.1:p.Leu3757=
XM_017009180.1:c.12366C>G	XP_016864669.1:p.Leu4122=
XM_017009185.1:c.7455C>G	XP_016864674.1:p.Leu2485=
XM_017009186.1:c.7008C>G	XP_016864675.1:p.Leu2336=
XM_017009188.1:c.6345C>G	XP_016864677.1:p.Leu2115=
XM_024454388.1:c.11271C>G	XP_024310156.1:p.Leu3757=
XM_024454389.1:c.10860C>G	XP_024310157.1:p.Leu3620=
NM_001369.3:c.12258C>G MANE Select	NP_001360.1:p.Leu4086=