Canonical Allele Identifier: CA337114

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 216084
• ClinVar RCV Id: RCV000197324
• dbSNP Id: rs863224503
• MyVariant Identifiers: chr5:g.13708446T>G (hg19) ; chr5:g.13708337T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13708337T>G , CM000667.2:g.13708337T>G	GRCh38
NC_000005.9:g.13708446T>G , CM000667.1:g.13708446T>G	GRCh37
NC_000005.8:g.13761446T>G	NCBI36
NG_013081.1:g.241144A>C
NG_013081.2:g.241144A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000683611.1:n.459-2A>C
ENST00000265104.5:c.13126-2A>C MANE Select	ENSP00000265104.4:n.13126-2A>C
ENST00000681290.1:c.13081-2A>C	ENSP00000505288.1:n.13081-2A>C
ENST00000265104.4:c.13126-2A>C	ENSP00000265104.4:n.13126-2A>C
NM_001369.2:c.13126-2A>C	NP_001360.1:n.13126-2A>C
XM_005248262.2:c.13081-2A>C	XP_005248319.1:n.13081-2A>C
XM_005248262.3:c.13234-2A>C	XP_005248319.2:n.13234-2A>C
XM_017009177.1:c.12814-2A>C	XP_016864666.1:n.12814-2A>C
XM_017009178.1:c.12139-2A>C	XP_016864667.1:n.12139-2A>C
XM_017009179.2:c.12139-2A>C	XP_016864668.1:n.12139-2A>C
XM_017009185.1:c.8323-2A>C	XP_016864674.1:n.8323-2A>C
XM_017009186.1:c.7876-2A>C	XP_016864675.1:n.7876-2A>C
XM_017009188.1:c.7213-2A>C	XP_016864677.1:n.7213-2A>C
XM_024454388.1:c.12139-2A>C	XP_024310156.1:n.12139-2A>C
XM_024454389.1:c.11728-2A>C	XP_024310157.1:n.11728-2A>C
NM_001369.3:c.13126-2A>C MANE Select	NP_001360.1:n.13126-2A>C