Canonical Allele Identifier: CA359201236

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13769074A>C (hg19) ; chr5:g.13768965A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13768965A>C , CM000667.2:g.13768965A>C	GRCh38
NC_000005.9:g.13769074A>C , CM000667.1:g.13769074A>C	GRCh37
NC_000005.8:g.13822074A>C	NCBI36
NG_013081.1:g.180516T>G
NG_013081.2:g.180516T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9892T>G MANE Select	ENSP00000265104.4:p.Leu3298Val
ENST00000681290.1:c.9847T>G	ENSP00000505288.1:p.Leu3283Val
ENST00000265104.4:c.9892T>G	ENSP00000265104.4:p.Leu3298Val
ENST00000504001.3:n.604T>G
NM_001369.2:c.9892T>G	NP_001360.1:p.Leu3298Val
XM_005248262.2:c.9847T>G	XP_005248319.1:p.Leu3283Val
XM_005248262.3:c.10000T>G	XP_005248319.2:p.Leu3334Val
XM_017009177.1:c.10000T>G	XP_016864666.1:p.Leu3334Val
XM_017009178.1:c.8905T>G	XP_016864667.1:p.Leu2969Val
XM_017009179.2:c.8905T>G	XP_016864668.1:p.Leu2969Val
XM_017009180.1:c.10000T>G	XP_016864669.1:p.Leu3334Val
XM_017009181.1:c.10000T>G	XP_016864670.1:p.Leu3334Val
XM_017009182.1:c.10000T>G	XP_016864671.1:p.Leu3334Val
XM_017009185.1:c.5089T>G	XP_016864674.1:p.Leu1697Val
XM_017009186.1:c.4642T>G	XP_016864675.1:p.Leu1548Val
XM_017009188.1:c.3979T>G	XP_016864677.1:p.Leu1327Val
XM_024454388.1:c.8905T>G	XP_024310156.1:p.Leu2969Val
XM_024454389.1:c.8494T>G	XP_024310157.1:p.Leu2832Val
NM_001369.3:c.9892T>G MANE Select	NP_001360.1:p.Leu3298Val