Canonical Allele Identifier: CA359204398

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13770916G>A (hg19) ; chr5:g.13770807G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13770807G>A , CM000667.2:g.13770807G>A	GRCh38
NC_000005.9:g.13770916G>A , CM000667.1:g.13770916G>A	GRCh37
NC_000005.8:g.13823916G>A	NCBI36
NG_013081.1:g.178674C>T
NG_013081.2:g.178674C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9547C>T MANE Select	ENSP00000265104.4:p.Gln3183Ter
ENST00000681290.1:c.9502C>T	ENSP00000505288.1:p.Gln3168Ter
ENST00000265104.4:c.9547C>T	ENSP00000265104.4:p.Gln3183Ter
ENST00000504001.3:n.259C>T
NM_001369.2:c.9547C>T	NP_001360.1:p.Gln3183Ter
XM_005248262.2:c.9502C>T	XP_005248319.1:p.Gln3168Ter
XM_005248262.3:c.9655C>T	XP_005248319.2:p.Gln3219Ter
XM_017009177.1:c.9655C>T	XP_016864666.1:p.Gln3219Ter
XM_017009178.1:c.8560C>T	XP_016864667.1:p.Gln2854Ter
XM_017009179.2:c.8560C>T	XP_016864668.1:p.Gln2854Ter
XM_017009180.1:c.9655C>T	XP_016864669.1:p.Gln3219Ter
XM_017009181.1:c.9655C>T	XP_016864670.1:p.Gln3219Ter
XM_017009182.1:c.9655C>T	XP_016864671.1:p.Gln3219Ter
XM_017009183.1:c.9655C>T	XP_016864672.1:p.Gln3219Ter
XM_017009185.1:c.4744C>T	XP_016864674.1:p.Gln1582Ter
XM_017009186.1:c.4297C>T	XP_016864675.1:p.Gln1433Ter
XM_017009188.1:c.3634C>T	XP_016864677.1:p.Gln1212Ter
XM_024454388.1:c.8560C>T	XP_024310156.1:p.Gln2854Ter
XM_024454389.1:c.8149C>T	XP_024310157.1:p.Gln2717Ter
NM_001369.3:c.9547C>T MANE Select	NP_001360.1:p.Gln3183Ter