Canonical Allele Identifier: CA359209211

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 2176537
• ClinVar RCV Id: RCV002610216
• dbSNP Id: rs1299785469
• gnomAD v2: 5-13776725-T-C
• gnomAD v3: 5-13776616-T-C
• gnomAD v4: 5-13776616-T-C
• MyVariant Identifiers: chr5:g.13776725T>C (hg19) ; chr5:g.13776616T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13776616T>C , CM000667.2:g.13776616T>C	GRCh38
NC_000005.9:g.13776725T>C , CM000667.1:g.13776725T>C	GRCh37
NC_000005.8:g.13829725T>C	NCBI36
NG_013081.1:g.172865A>G
NG_013081.2:g.172865A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9196A>G MANE Select	ENSP00000265104.4:p.Thr3066Ala
ENST00000681290.1:c.9151A>G	ENSP00000505288.1:p.Thr3051Ala
ENST00000265104.4:c.9196A>G	ENSP00000265104.4:p.Thr3066Ala
NM_001369.2:c.9196A>G	NP_001360.1:p.Thr3066Ala
XM_005248262.2:c.9151A>G	XP_005248319.1:p.Thr3051Ala
XM_005248262.3:c.9304A>G	XP_005248319.2:p.Thr3102Ala
XM_017009177.1:c.9304A>G	XP_016864666.1:p.Thr3102Ala
XM_017009178.1:c.8209A>G	XP_016864667.1:p.Thr2737Ala
XM_017009179.2:c.8209A>G	XP_016864668.1:p.Thr2737Ala
XM_017009180.1:c.9304A>G	XP_016864669.1:p.Thr3102Ala
XM_017009181.1:c.9304A>G	XP_016864670.1:p.Thr3102Ala
XM_017009182.1:c.9304A>G	XP_016864671.1:p.Thr3102Ala
XM_017009183.1:c.9304A>G	XP_016864672.1:p.Thr3102Ala
XM_017009185.1:c.4393A>G	XP_016864674.1:p.Thr1465Ala
XM_017009186.1:c.3946A>G	XP_016864675.1:p.Thr1316Ala
XM_017009188.1:c.3283A>G	XP_016864677.1:p.Thr1095Ala
XM_024454388.1:c.8209A>G	XP_024310156.1:p.Thr2737Ala
XM_024454389.1:c.7798A>G	XP_024310157.1:p.Thr2600Ala
NM_001369.3:c.9196A>G MANE Select	NP_001360.1:p.Thr3066Ala