Canonical Allele Identifier: CA359224819

Gene: DNAH5

Linked Data

• dbSNP Id: rs1366350681
• gnomAD v2: 5-13735982-T-C
• gnomAD v4: 5-13735873-T-C
• MyVariant Identifiers: chr5:g.13735982T>C (hg19) ; chr5:g.13735873T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13735873T>C , CM000667.2:g.13735873T>C	GRCh38
NC_000005.9:g.13735982T>C , CM000667.1:g.13735982T>C	GRCh37
NC_000005.8:g.13788982T>C	NCBI36
NG_013081.1:g.213608A>G
NG_013081.2:g.213608A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.11515A>G MANE Select	ENSP00000265104.4:p.Met3839Val
ENST00000681290.1:c.11470A>G	ENSP00000505288.1:p.Met3824Val
ENST00000265104.4:c.11515A>G	ENSP00000265104.4:p.Met3839Val
NM_001369.2:c.11515A>G	NP_001360.1:p.Met3839Val
XM_005248262.2:c.11470A>G	XP_005248319.1:p.Met3824Val
XM_005248262.3:c.11623A>G	XP_005248319.2:p.Met3875Val
XM_017009177.1:c.11623A>G	XP_016864666.1:p.Met3875Val
XM_017009178.1:c.10528A>G	XP_016864667.1:p.Met3510Val
XM_017009179.2:c.10528A>G	XP_016864668.1:p.Met3510Val
XM_017009180.1:c.11623A>G	XP_016864669.1:p.Met3875Val
XM_017009181.1:c.11623A>G	XP_016864670.1:p.Met3875Val
XM_017009182.1:c.11379A>G	XP_016864671.1:p.Arg3793=
XM_017009185.1:c.6712A>G	XP_016864674.1:p.Met2238Val
XM_017009186.1:c.6265A>G	XP_016864675.1:p.Met2089Val
XM_017009188.1:c.5602A>G	XP_016864677.1:p.Met1868Val
XM_024454388.1:c.10528A>G	XP_024310156.1:p.Met3510Val
XM_024454389.1:c.10117A>G	XP_024310157.1:p.Met3373Val
NM_001369.3:c.11515A>G MANE Select	NP_001360.1:p.Met3839Val