Canonical Allele Identifier: CA3202162

Gene: DNAH5

Linked Data

• dbSNP Id: rs750891441
• ExAC: 5:13753565 A / C
• gnomAD v2: 5-13753565-A-C
• gnomAD v4: 5-13753456-A-C
• MyVariant Identifiers: chr5:g.13753565A>C (hg19) ; chr5:g.13753456A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13753456A>C , CM000667.2:g.13753456A>C	GRCh38
NC_000005.9:g.13753565A>C , CM000667.1:g.13753565A>C	GRCh37
NC_000005.8:g.13806565A>C	NCBI36
NG_013081.1:g.196025T>G
NG_013081.2:g.196025T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10649T>G MANE Select	ENSP00000265104.4:p.Met3550Arg
ENST00000681290.1:c.10604T>G	ENSP00000505288.1:p.Met3535Arg
ENST00000265104.4:c.10649T>G	ENSP00000265104.4:p.Met3550Arg
NM_001369.2:c.10649T>G	NP_001360.1:p.Met3550Arg
XM_005248262.2:c.10604T>G	XP_005248319.1:p.Met3535Arg
XM_005248262.3:c.10757T>G	XP_005248319.2:p.Met3586Arg
XM_017009177.1:c.10757T>G	XP_016864666.1:p.Met3586Arg
XM_017009178.1:c.9662T>G	XP_016864667.1:p.Met3221Arg
XM_017009179.2:c.9662T>G	XP_016864668.1:p.Met3221Arg
XM_017009180.1:c.10757T>G	XP_016864669.1:p.Met3586Arg
XM_017009181.1:c.10757T>G	XP_016864670.1:p.Met3586Arg
XM_017009182.1:c.10757T>G	XP_016864671.1:p.Met3586Arg
XM_017009185.1:c.5846T>G	XP_016864674.1:p.Met1949Arg
XM_017009186.1:c.5399T>G	XP_016864675.1:p.Met1800Arg
XM_017009188.1:c.4736T>G	XP_016864677.1:p.Met1579Arg
XM_024454388.1:c.9662T>G	XP_024310156.1:p.Met3221Arg
XM_024454389.1:c.9251T>G	XP_024310157.1:p.Met3084Arg
NM_001369.3:c.10649T>G MANE Select	NP_001360.1:p.Met3550Arg