Canonical Allele Identifier: CA359201596

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13769118T>G (hg19) ; chr5:g.13769009T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13769009T>G , CM000667.2:g.13769009T>G	GRCh38
NC_000005.9:g.13769118T>G , CM000667.1:g.13769118T>G	GRCh37
NC_000005.8:g.13822118T>G	NCBI36
NG_013081.1:g.180472A>C
NG_013081.2:g.180472A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9848A>C MANE Select	ENSP00000265104.4:p.Lys3283Thr
ENST00000681290.1:c.9803A>C	ENSP00000505288.1:p.Lys3268Thr
ENST00000265104.4:c.9848A>C	ENSP00000265104.4:p.Lys3283Thr
ENST00000504001.3:n.560A>C
NM_001369.2:c.9848A>C	NP_001360.1:p.Lys3283Thr
XM_005248262.2:c.9803A>C	XP_005248319.1:p.Lys3268Thr
XM_005248262.3:c.9956A>C	XP_005248319.2:p.Lys3319Thr
XM_017009177.1:c.9956A>C	XP_016864666.1:p.Lys3319Thr
XM_017009178.1:c.8861A>C	XP_016864667.1:p.Lys2954Thr
XM_017009179.2:c.8861A>C	XP_016864668.1:p.Lys2954Thr
XM_017009180.1:c.9956A>C	XP_016864669.1:p.Lys3319Thr
XM_017009181.1:c.9956A>C	XP_016864670.1:p.Lys3319Thr
XM_017009182.1:c.9956A>C	XP_016864671.1:p.Lys3319Thr
XM_017009185.1:c.5045A>C	XP_016864674.1:p.Lys1682Thr
XM_017009186.1:c.4598A>C	XP_016864675.1:p.Lys1533Thr
XM_017009188.1:c.3935A>C	XP_016864677.1:p.Lys1312Thr
XM_024454388.1:c.8861A>C	XP_024310156.1:p.Lys2954Thr
XM_024454389.1:c.8450A>C	XP_024310157.1:p.Lys2817Thr
NM_001369.3:c.9848A>C MANE Select	NP_001360.1:p.Lys3283Thr