Canonical Allele Identifier: CA359204273

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13770788-T-C
• MyVariant Identifiers: chr5:g.13770897T>C (hg19) ; chr5:g.13770788T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13770788T>C , CM000667.2:g.13770788T>C	GRCh38
NC_000005.9:g.13770897T>C , CM000667.1:g.13770897T>C	GRCh37
NC_000005.8:g.13823897T>C	NCBI36
NG_013081.1:g.178693A>G
NG_013081.2:g.178693A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9566A>G MANE Select	ENSP00000265104.4:p.Tyr3189Cys
ENST00000681290.1:c.9521A>G	ENSP00000505288.1:p.Tyr3174Cys
ENST00000265104.4:c.9566A>G	ENSP00000265104.4:p.Tyr3189Cys
ENST00000504001.3:n.278A>G
NM_001369.2:c.9566A>G	NP_001360.1:p.Tyr3189Cys
XM_005248262.2:c.9521A>G	XP_005248319.1:p.Tyr3174Cys
XM_005248262.3:c.9674A>G	XP_005248319.2:p.Tyr3225Cys
XM_017009177.1:c.9674A>G	XP_016864666.1:p.Tyr3225Cys
XM_017009178.1:c.8579A>G	XP_016864667.1:p.Tyr2860Cys
XM_017009179.2:c.8579A>G	XP_016864668.1:p.Tyr2860Cys
XM_017009180.1:c.9674A>G	XP_016864669.1:p.Tyr3225Cys
XM_017009181.1:c.9674A>G	XP_016864670.1:p.Tyr3225Cys
XM_017009182.1:c.9674A>G	XP_016864671.1:p.Tyr3225Cys
XM_017009183.1:c.9674A>G	XP_016864672.1:p.Tyr3225Cys
XM_017009185.1:c.4763A>G	XP_016864674.1:p.Tyr1588Cys
XM_017009186.1:c.4316A>G	XP_016864675.1:p.Tyr1439Cys
XM_017009188.1:c.3653A>G	XP_016864677.1:p.Tyr1218Cys
XM_024454388.1:c.8579A>G	XP_024310156.1:p.Tyr2860Cys
XM_024454389.1:c.8168A>G	XP_024310157.1:p.Tyr2723Cys
NM_001369.3:c.9566A>G MANE Select	NP_001360.1:p.Tyr3189Cys