Canonical Allele Identifier: CA3202542

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 525349
• ClinVar RCV Id: RCV000629403 ; RCV001151914
• dbSNP Id: rs149187750
• ExAC: 5:13771002 T / G
• gnomAD v2: 5-13771002-T-G
• gnomAD v3: 5-13770893-T-G
• gnomAD v4: 5-13770893-T-G
• MyVariant Identifiers: chr5:g.13771002T>G (hg19) ; chr5:g.13770893T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13770893T>G , CM000667.2:g.13770893T>G	GRCh38
NC_000005.9:g.13771002T>G , CM000667.1:g.13771002T>G	GRCh37
NC_000005.8:g.13824002T>G	NCBI36
NG_013081.1:g.178588A>C
NG_013081.2:g.178588A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9461A>C MANE Select	ENSP00000265104.4:p.Asp3154Ala
ENST00000681290.1:c.9416A>C	ENSP00000505288.1:p.Asp3139Ala
ENST00000265104.4:c.9461A>C	ENSP00000265104.4:p.Asp3154Ala
ENST00000504001.3:n.173A>C
NM_001369.2:c.9461A>C	NP_001360.1:p.Asp3154Ala
XM_005248262.2:c.9416A>C	XP_005248319.1:p.Asp3139Ala
XM_005248262.3:c.9569A>C	XP_005248319.2:p.Asp3190Ala
XM_017009177.1:c.9569A>C	XP_016864666.1:p.Asp3190Ala
XM_017009178.1:c.8474A>C	XP_016864667.1:p.Asp2825Ala
XM_017009179.2:c.8474A>C	XP_016864668.1:p.Asp2825Ala
XM_017009180.1:c.9569A>C	XP_016864669.1:p.Asp3190Ala
XM_017009181.1:c.9569A>C	XP_016864670.1:p.Asp3190Ala
XM_017009182.1:c.9569A>C	XP_016864671.1:p.Asp3190Ala
XM_017009183.1:c.9569A>C	XP_016864672.1:p.Asp3190Ala
XM_017009185.1:c.4658A>C	XP_016864674.1:p.Asp1553Ala
XM_017009186.1:c.4211A>C	XP_016864675.1:p.Asp1404Ala
XM_017009188.1:c.3548A>C	XP_016864677.1:p.Asp1183Ala
XM_024454388.1:c.8474A>C	XP_024310156.1:p.Asp2825Ala
XM_024454389.1:c.8063A>C	XP_024310157.1:p.Asp2688Ala
NM_001369.3:c.9461A>C MANE Select	NP_001360.1:p.Asp3154Ala