Canonical Allele Identifier: CA359201230

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13768964-A-C
• MyVariant Identifiers: chr5:g.13769073A>C (hg19) ; chr5:g.13768964A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13768964A>C , CM000667.2:g.13768964A>C	GRCh38
NC_000005.9:g.13769073A>C , CM000667.1:g.13769073A>C	GRCh37
NC_000005.8:g.13822073A>C	NCBI36
NG_013081.1:g.180517T>G
NG_013081.2:g.180517T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9893T>G MANE Select	ENSP00000265104.4:p.Leu3298Trp
ENST00000681290.1:c.9848T>G	ENSP00000505288.1:p.Leu3283Trp
ENST00000265104.4:c.9893T>G	ENSP00000265104.4:p.Leu3298Trp
ENST00000504001.3:n.605T>G
NM_001369.2:c.9893T>G	NP_001360.1:p.Leu3298Trp
XM_005248262.2:c.9848T>G	XP_005248319.1:p.Leu3283Trp
XM_005248262.3:c.10001T>G	XP_005248319.2:p.Leu3334Trp
XM_017009177.1:c.10001T>G	XP_016864666.1:p.Leu3334Trp
XM_017009178.1:c.8906T>G	XP_016864667.1:p.Leu2969Trp
XM_017009179.2:c.8906T>G	XP_016864668.1:p.Leu2969Trp
XM_017009180.1:c.10001T>G	XP_016864669.1:p.Leu3334Trp
XM_017009181.1:c.10001T>G	XP_016864670.1:p.Leu3334Trp
XM_017009182.1:c.10001T>G	XP_016864671.1:p.Leu3334Trp
XM_017009185.1:c.5090T>G	XP_016864674.1:p.Leu1697Trp
XM_017009186.1:c.4643T>G	XP_016864675.1:p.Leu1548Trp
XM_017009188.1:c.3980T>G	XP_016864677.1:p.Leu1327Trp
XM_024454388.1:c.8906T>G	XP_024310156.1:p.Leu2969Trp
XM_024454389.1:c.8495T>G	XP_024310157.1:p.Leu2832Trp
NM_001369.3:c.9893T>G MANE Select	NP_001360.1:p.Leu3298Trp