Canonical Allele Identifier: CA113905393

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 907915
• ClinVar RCV Id: RCV001158087 ; RCV003438687
• dbSNP Id: rs151143347
• gnomAD v2: 5-13692009-G-A
• gnomAD v3: 5-13691900-G-A
• gnomAD v4: 5-13691900-G-A
• MyVariant Identifiers: chr5:g.13692009G>A (hg19) ; chr5:g.13691900G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13691900G>A , CM000667.2:g.13691900G>A	GRCh38
NC_000005.9:g.13692009G>A , CM000667.1:g.13692009G>A	GRCh37
NC_000005.8:g.13745009G>A	NCBI36
NG_013081.1:g.257581C>T
NG_013081.2:g.257581C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1292C>T
ENST00000265104.5:c.*84C>T MANE Select	ENSP00000265104.4:n.*84C>T
ENST00000681290.1:c.*84C>T	ENSP00000505288.1:n.*84C>T
ENST00000265104.4:c.*84C>T	ENSP00000265104.4:n.*84C>T
NM_001369.2:c.*84C>T	NP_001360.1:n.*84C>T
XM_005248262.2:c.*84C>T	XP_005248319.1:n.*84C>T
XM_005248262.3:c.*84C>T	XP_005248319.2:n.*84C>T
XM_017009177.1:c.*84C>T	XP_016864666.1:n.*84C>T
XM_017009178.1:c.*84C>T	XP_016864667.1:n.*84C>T
XM_017009179.2:c.*84C>T	XP_016864668.1:n.*84C>T
XM_017009185.1:c.*84C>T	XP_016864674.1:n.*84C>T
XM_017009186.1:c.*84C>T	XP_016864675.1:n.*84C>T
XM_017009188.1:c.*84C>T	XP_016864677.1:n.*84C>T
XM_024454388.1:c.*84C>T	XP_024310156.1:n.*84C>T
XM_024454389.1:c.*84C>T	XP_024310157.1:n.*84C>T
NM_001369.3:c.*84C>T MANE Select	NP_001360.1:n.*84C>T