Canonical Allele Identifier: CA3201607

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 351016
• ClinVar RCV Id: RCV000301182 ; RCV002058508
• dbSNP Id: rs200056509
• ExAC: 5:13717640 C / T
• gnomAD v2: 5-13717640-C-T
• gnomAD v3: 5-13717531-C-T
• gnomAD v4: 5-13717531-C-T
• MyVariant Identifiers: chr5:g.13717640C>T (hg19) ; chr5:g.13717531C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13717531C>T , CM000667.2:g.13717531C>T	GRCh38
NC_000005.9:g.13717640C>T , CM000667.1:g.13717640C>T	GRCh37
NC_000005.8:g.13770640C>T	NCBI36
NG_013081.1:g.231950G>A
NG_013081.2:g.231950G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.12500-11G>A MANE Select	ENSP00000265104.4:n.12500-11G>A
ENST00000681290.1:c.12455-11G>A	ENSP00000505288.1:n.12455-11G>A
ENST00000265104.4:c.12500-11G>A	ENSP00000265104.4:n.12500-11G>A
NM_001369.2:c.12500-11G>A	NP_001360.1:n.12500-11G>A
XM_005248262.2:c.12455-11G>A	XP_005248319.1:n.12455-11G>A
XM_005248262.3:c.12608-11G>A	XP_005248319.2:n.12608-11G>A
XM_017009177.1:c.12608-11G>A	XP_016864666.1:n.12608-11G>A
XM_017009178.1:c.11513-11G>A	XP_016864667.1:n.11513-11G>A
XM_017009179.2:c.11513-11G>A	XP_016864668.1:n.11513-11G>A
XM_017009180.1:c.12608-11G>A	XP_016864669.1:n.12608-11G>A
XM_017009185.1:c.7697-11G>A	XP_016864674.1:n.7697-11G>A
XM_017009186.1:c.7250-11G>A	XP_016864675.1:n.7250-11G>A
XM_017009188.1:c.6587-11G>A	XP_016864677.1:n.6587-11G>A
XM_024454388.1:c.11513-11G>A	XP_024310156.1:n.11513-11G>A
XM_024454389.1:c.11102-11G>A	XP_024310157.1:n.11102-11G>A
NM_001369.3:c.12500-11G>A MANE Select	NP_001360.1:n.12500-11G>A