Canonical Allele Identifier: CA359222446

Gene: DNAH5

Linked Data

• dbSNP Id: rs965731660
• gnomAD v3: 5-13735136-A-G
• gnomAD v4: 5-13735136-A-G
• MyVariant Identifiers: chr5:g.13735245A>G (hg19) ; chr5:g.13735136A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13735136A>G , CM000667.2:g.13735136A>G	GRCh38
NC_000005.9:g.13735245A>G , CM000667.1:g.13735245A>G	GRCh37
NC_000005.8:g.13788245A>G	NCBI36
NG_013081.1:g.214345T>C
NG_013081.2:g.214345T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.11756T>C MANE Select	ENSP00000265104.4:p.Ile3919Thr
ENST00000681290.1:c.11711T>C	ENSP00000505288.1:p.Ile3904Thr
ENST00000265104.4:c.11756T>C	ENSP00000265104.4:p.Ile3919Thr
NM_001369.2:c.11756T>C	NP_001360.1:p.Ile3919Thr
XM_005248262.2:c.11711T>C	XP_005248319.1:p.Ile3904Thr
XM_005248262.3:c.11864T>C	XP_005248319.2:p.Ile3955Thr
XM_017009177.1:c.11864T>C	XP_016864666.1:p.Ile3955Thr
XM_017009178.1:c.10769T>C	XP_016864667.1:p.Ile3590Thr
XM_017009179.2:c.10769T>C	XP_016864668.1:p.Ile3590Thr
XM_017009180.1:c.11864T>C	XP_016864669.1:p.Ile3955Thr
XM_017009181.1:c.11864T>C	XP_016864670.1:p.Ile3955Thr
XM_017009185.1:c.6953T>C	XP_016864674.1:p.Ile2318Thr
XM_017009186.1:c.6506T>C	XP_016864675.1:p.Ile2169Thr
XM_017009188.1:c.5843T>C	XP_016864677.1:p.Ile1948Thr
XM_024454388.1:c.10769T>C	XP_024310156.1:p.Ile3590Thr
XM_024454389.1:c.10358T>C	XP_024310157.1:p.Ile3453Thr
NM_001369.3:c.11756T>C MANE Select	NP_001360.1:p.Ile3919Thr