Canonical Allele Identifier: CA359204144

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13770876A>C (hg19) ; chr5:g.13770767A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13770767A>C , CM000667.2:g.13770767A>C	GRCh38
NC_000005.9:g.13770876A>C , CM000667.1:g.13770876A>C	GRCh37
NC_000005.8:g.13823876A>C	NCBI36
NG_013081.1:g.178714T>G
NG_013081.2:g.178714T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.9587T>G MANE Select	ENSP00000265104.4:p.Val3196Gly
ENST00000681290.1:c.9542T>G	ENSP00000505288.1:p.Val3181Gly
ENST00000265104.4:c.9587T>G	ENSP00000265104.4:p.Val3196Gly
ENST00000504001.3:n.299T>G
NM_001369.2:c.9587T>G	NP_001360.1:p.Val3196Gly
XM_005248262.2:c.9542T>G	XP_005248319.1:p.Val3181Gly
XM_005248262.3:c.9695T>G	XP_005248319.2:p.Val3232Gly
XM_017009177.1:c.9695T>G	XP_016864666.1:p.Val3232Gly
XM_017009178.1:c.8600T>G	XP_016864667.1:p.Val2867Gly
XM_017009179.2:c.8600T>G	XP_016864668.1:p.Val2867Gly
XM_017009180.1:c.9695T>G	XP_016864669.1:p.Val3232Gly
XM_017009181.1:c.9695T>G	XP_016864670.1:p.Val3232Gly
XM_017009182.1:c.9695T>G	XP_016864671.1:p.Val3232Gly
XM_017009183.1:c.9695T>G	XP_016864672.1:p.Val3232Gly
XM_017009185.1:c.4784T>G	XP_016864674.1:p.Val1595Gly
XM_017009186.1:c.4337T>G	XP_016864675.1:p.Val1446Gly
XM_017009188.1:c.3674T>G	XP_016864677.1:p.Val1225Gly
XM_024454388.1:c.8600T>G	XP_024310156.1:p.Val2867Gly
XM_024454389.1:c.8189T>G	XP_024310157.1:p.Val2730Gly
NM_001369.3:c.9587T>G MANE Select	NP_001360.1:p.Val3196Gly