Canonical Allele Identifier: CA359212859

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13780914-C-G
• MyVariant Identifiers: chr5:g.13781023C>G (hg19) ; chr5:g.13780914C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13780914C>G , CM000667.2:g.13780914C>G	GRCh38
NC_000005.9:g.13781023C>G , CM000667.1:g.13781023C>G	GRCh37
NC_000005.8:g.13834023C>G	NCBI36
NG_013081.1:g.168567G>C
NG_013081.2:g.168567G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.8866G>C MANE Select	ENSP00000265104.4:p.Gly2956Arg
ENST00000681290.1:c.8821G>C	ENSP00000505288.1:p.Gly2941Arg
ENST00000265104.4:c.8866G>C	ENSP00000265104.4:p.Gly2956Arg
NM_001369.2:c.8866G>C	NP_001360.1:p.Gly2956Arg
XM_005248262.2:c.8821G>C	XP_005248319.1:p.Gly2941Arg
XM_011513990.1:c.8866G>C	XP_011512292.1:p.Gly2956Arg
XR_925598.1:n.9028-3559G>C
XM_005248262.3:c.8974G>C	XP_005248319.2:p.Gly2992Arg
XM_017009177.1:c.8974G>C	XP_016864666.1:p.Gly2992Arg
XM_017009178.1:c.7879G>C	XP_016864667.1:p.Gly2627Arg
XM_017009179.2:c.7879G>C	XP_016864668.1:p.Gly2627Arg
XM_017009180.1:c.8974G>C	XP_016864669.1:p.Gly2992Arg
XM_017009181.1:c.8974G>C	XP_016864670.1:p.Gly2992Arg
XM_017009182.1:c.8974G>C	XP_016864671.1:p.Gly2992Arg
XM_017009183.1:c.8974G>C	XP_016864672.1:p.Gly2992Arg
XM_017009184.1:c.8974G>C	XP_016864673.1:p.Gly2992Arg
XM_017009185.1:c.4063G>C	XP_016864674.1:p.Gly1355Arg
XM_017009186.1:c.3616G>C	XP_016864675.1:p.Gly1206Arg
XM_017009188.1:c.2953G>C	XP_016864677.1:p.Gly985Arg
XM_024454388.1:c.7879G>C	XP_024310156.1:p.Gly2627Arg
XM_024454389.1:c.7468G>C	XP_024310157.1:p.Gly2490Arg
XR_001742034.1:n.8946-3559G>C
XR_001742035.1:n.8946-3559G>C
NM_001369.3:c.8866G>C MANE Select	NP_001360.1:p.Gly2956Arg