Canonical Allele Identifier: CA3201257

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 2986802
• ClinVar RCV Id: RCV003846457
• dbSNP Id: rs760823380
• ExAC: 5:13692255 C / A
• gnomAD v2: 5-13692255-C-A
• gnomAD v3: 5-13692146-C-A
• gnomAD v4: 5-13692146-C-A
• MyVariant Identifiers: chr5:g.13692255C>A (hg19) ; chr5:g.13692146C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692146C>A , CM000667.2:g.13692146C>A	GRCh38
NC_000005.9:g.13692255C>A , CM000667.1:g.13692255C>A	GRCh37
NC_000005.8:g.13745255C>A	NCBI36
NG_013081.1:g.257335G>T
NG_013081.2:g.257335G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000683611.1:n.1057-11G>T
ENST00000265104.5:c.13724-11G>T MANE Select	ENSP00000265104.4:n.13724-11G>T
ENST00000681290.1:c.13679-11G>T	ENSP00000505288.1:n.13679-11G>T
ENST00000265104.4:c.13724-11G>T	ENSP00000265104.4:n.13724-11G>T
NM_001369.2:c.13724-11G>T	NP_001360.1:n.13724-11G>T
XM_005248262.2:c.13679-11G>T	XP_005248319.1:n.13679-11G>T
XM_005248262.3:c.13832-11G>T	XP_005248319.2:n.13832-11G>T
XM_017009177.1:c.13412-11G>T	XP_016864666.1:n.13412-11G>T
XM_017009178.1:c.12737-11G>T	XP_016864667.1:n.12737-11G>T
XM_017009179.2:c.12737-11G>T	XP_016864668.1:n.12737-11G>T
XM_017009185.1:c.8921-11G>T	XP_016864674.1:n.8921-11G>T
XM_017009186.1:c.8474-11G>T	XP_016864675.1:n.8474-11G>T
XM_017009188.1:c.7811-11G>T	XP_016864677.1:n.7811-11G>T
XM_024454388.1:c.12737-11G>T	XP_024310156.1:n.12737-11G>T
XM_024454389.1:c.12326-11G>T	XP_024310157.1:n.12326-11G>T
NM_001369.3:c.13724-11G>T MANE Select	NP_001360.1:n.13724-11G>T