Canonical Allele Identifier: CA359209754

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13776684-T-G
• MyVariant Identifiers: chr5:g.13776793T>G (hg19) ; chr5:g.13776684T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13776684T>G , CM000667.2:g.13776684T>G	GRCh38
NC_000005.9:g.13776793T>G , CM000667.1:g.13776793T>G	GRCh37
NC_000005.8:g.13829793T>G	NCBI36
NG_013081.1:g.172797A>C
NG_013081.2:g.172797A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9128A>C MANE Select	ENSP00000265104.4:p.Asp3043Ala
ENST00000681290.1:c.9083A>C	ENSP00000505288.1:p.Asp3028Ala
ENST00000265104.4:c.9128A>C	ENSP00000265104.4:p.Asp3043Ala
NM_001369.2:c.9128A>C	NP_001360.1:p.Asp3043Ala
XM_005248262.2:c.9083A>C	XP_005248319.1:p.Asp3028Ala
XM_011513990.1:c.*15A>C	XP_011512292.1:n.*15A>C
XR_925598.1:n.9199A>C
XM_005248262.3:c.9236A>C	XP_005248319.2:p.Asp3079Ala
XM_017009177.1:c.9236A>C	XP_016864666.1:p.Asp3079Ala
XM_017009178.1:c.8141A>C	XP_016864667.1:p.Asp2714Ala
XM_017009179.2:c.8141A>C	XP_016864668.1:p.Asp2714Ala
XM_017009180.1:c.9236A>C	XP_016864669.1:p.Asp3079Ala
XM_017009181.1:c.9236A>C	XP_016864670.1:p.Asp3079Ala
XM_017009182.1:c.9236A>C	XP_016864671.1:p.Asp3079Ala
XM_017009183.1:c.9236A>C	XP_016864672.1:p.Asp3079Ala
XM_017009184.1:c.*15A>C	XP_016864673.1:n.*15A>C
XM_017009185.1:c.4325A>C	XP_016864674.1:p.Asp1442Ala
XM_017009186.1:c.3878A>C	XP_016864675.1:p.Asp1293Ala
XM_017009188.1:c.3215A>C	XP_016864677.1:p.Asp1072Ala
XM_024454388.1:c.8141A>C	XP_024310156.1:p.Asp2714Ala
XM_024454389.1:c.7730A>C	XP_024310157.1:p.Asp2577Ala
XR_001742034.1:n.9122A>C
XR_001742035.1:n.9117A>C
NM_001369.3:c.9128A>C MANE Select	NP_001360.1:p.Asp3043Ala