Canonical Allele Identifier: CA3201412

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 903761
• ClinVar RCV Id: RCV001151280 ; RCV002557262
• dbSNP Id: rs373749995
• ExAC: 5:13708315 C / G
• gnomAD v2: 5-13708315-C-G
• gnomAD v3: 5-13708206-C-G
• gnomAD v4: 5-13708206-C-G
• MyVariant Identifiers: chr5:g.13708315C>G (hg19) ; chr5:g.13708206C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13708206C>G , CM000667.2:g.13708206C>G	GRCh38
NC_000005.9:g.13708315C>G , CM000667.1:g.13708315C>G	GRCh37
NC_000005.8:g.13761315C>G	NCBI36
NG_013081.1:g.241275G>C
NG_013081.2:g.241275G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.588G>C
ENST00000265104.5:c.13255G>C MANE Select	ENSP00000265104.4:p.Asp4419His
ENST00000681290.1:c.13210G>C	ENSP00000505288.1:p.Asp4404His
ENST00000265104.4:c.13255G>C	ENSP00000265104.4:p.Asp4419His
NM_001369.2:c.13255G>C	NP_001360.1:p.Asp4419His
XM_005248262.2:c.13210G>C	XP_005248319.1:p.Asp4404His
XM_005248262.3:c.13363G>C	XP_005248319.2:p.Asp4455His
XM_017009177.1:c.12943G>C	XP_016864666.1:p.Asp4315His
XM_017009178.1:c.12268G>C	XP_016864667.1:p.Asp4090His
XM_017009179.2:c.12268G>C	XP_016864668.1:p.Asp4090His
XM_017009185.1:c.8452G>C	XP_016864674.1:p.Asp2818His
XM_017009186.1:c.8005G>C	XP_016864675.1:p.Asp2669His
XM_017009188.1:c.7342G>C	XP_016864677.1:p.Asp2448His
XM_024454388.1:c.12268G>C	XP_024310156.1:p.Asp4090His
XM_024454389.1:c.11857G>C	XP_024310157.1:p.Asp3953His
NM_001369.3:c.13255G>C MANE Select	NP_001360.1:p.Asp4419His