Canonical Allele Identifier: CA359212774

Gene: DNAH5

Linked Data

• dbSNP Id: rs1755008194
• gnomAD v3: 5-13780890-T-G
• gnomAD v4: 5-13780890-T-G
• MyVariant Identifiers: chr5:g.13780999T>G (hg19) ; chr5:g.13780890T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13780890T>G , CM000667.2:g.13780890T>G	GRCh38
NC_000005.9:g.13780999T>G , CM000667.1:g.13780999T>G	GRCh37
NC_000005.8:g.13833999T>G	NCBI36
NG_013081.1:g.168591A>C
NG_013081.2:g.168591A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.8890A>C MANE Select	ENSP00000265104.4:p.Ser2964Arg
ENST00000681290.1:c.8845A>C	ENSP00000505288.1:p.Ser2949Arg
ENST00000265104.4:c.8890A>C	ENSP00000265104.4:p.Ser2964Arg
NM_001369.2:c.8890A>C	NP_001360.1:p.Ser2964Arg
XM_005248262.2:c.8845A>C	XP_005248319.1:p.Ser2949Arg
XM_011513990.1:c.8890A>C	XP_011512292.1:p.Ser2964Arg
XR_925598.1:n.9028-3535A>C
XM_005248262.3:c.8998A>C	XP_005248319.2:p.Ser3000Arg
XM_017009177.1:c.8998A>C	XP_016864666.1:p.Ser3000Arg
XM_017009178.1:c.7903A>C	XP_016864667.1:p.Ser2635Arg
XM_017009179.2:c.7903A>C	XP_016864668.1:p.Ser2635Arg
XM_017009180.1:c.8998A>C	XP_016864669.1:p.Ser3000Arg
XM_017009181.1:c.8998A>C	XP_016864670.1:p.Ser3000Arg
XM_017009182.1:c.8998A>C	XP_016864671.1:p.Ser3000Arg
XM_017009183.1:c.8998A>C	XP_016864672.1:p.Ser3000Arg
XM_017009184.1:c.8998A>C	XP_016864673.1:p.Ser3000Arg
XM_017009185.1:c.4087A>C	XP_016864674.1:p.Ser1363Arg
XM_017009186.1:c.3640A>C	XP_016864675.1:p.Ser1214Arg
XM_017009188.1:c.2977A>C	XP_016864677.1:p.Ser993Arg
XM_024454388.1:c.7903A>C	XP_024310156.1:p.Ser2635Arg
XM_024454389.1:c.7492A>C	XP_024310157.1:p.Ser2498Arg
XR_001742034.1:n.8946-3535A>C
XR_001742035.1:n.8946-3535A>C
NM_001369.3:c.8890A>C MANE Select	NP_001360.1:p.Ser2964Arg