Canonical Allele Identifier: CA113932392

Gene: DNAH5

Linked Data

• dbSNP Id: rs772478899
• gnomAD v3: 5-13770608-C-G
• gnomAD v4: 5-13770608-C-G
• MyVariant Identifiers: chr5:g.13770717C>G (hg19) ; chr5:g.13770608C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13770608C>G , CM000667.2:g.13770608C>G	GRCh38
NC_000005.9:g.13770717C>G , CM000667.1:g.13770717C>G	GRCh37
NC_000005.8:g.13823717C>G	NCBI36
NG_013081.1:g.178873G>C
NG_013081.2:g.178873G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9605+141G>C MANE Select	ENSP00000265104.4:n.9605+141G>C
ENST00000681290.1:c.9560+141G>C	ENSP00000505288.1:n.9560+141G>C
ENST00000265104.4:c.9605+141G>C	ENSP00000265104.4:n.9605+141G>C
ENST00000504001.3:n.317+141G>C
NM_001369.2:c.9605+141G>C	NP_001360.1:n.9605+141G>C
XM_005248262.2:c.9560+141G>C	XP_005248319.1:n.9560+141G>C
XM_005248262.3:c.9713+141G>C	XP_005248319.2:n.9713+141G>C
XM_017009177.1:c.9713+141G>C	XP_016864666.1:n.9713+141G>C
XM_017009178.1:c.8618+141G>C	XP_016864667.1:n.8618+141G>C
XM_017009179.2:c.8618+141G>C	XP_016864668.1:n.8618+141G>C
XM_017009180.1:c.9713+141G>C	XP_016864669.1:n.9713+141G>C
XM_017009181.1:c.9713+141G>C	XP_016864670.1:n.9713+141G>C
XM_017009182.1:c.9713+141G>C	XP_016864671.1:n.9713+141G>C
XM_017009183.1:c.*137G>C	XP_016864672.1:n.*137G>C
XM_017009185.1:c.4802+141G>C	XP_016864674.1:n.4802+141G>C
XM_017009186.1:c.4355+141G>C	XP_016864675.1:n.4355+141G>C
XM_017009188.1:c.3692+141G>C	XP_016864677.1:n.3692+141G>C
XM_024454388.1:c.8618+141G>C	XP_024310156.1:n.8618+141G>C
XM_024454389.1:c.8207+141G>C	XP_024310157.1:n.8207+141G>C
NM_001369.3:c.9605+141G>C MANE Select	NP_001360.1:n.9605+141G>C