Canonical Allele Identifier: CA359208780

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13776562-T-G
• MyVariant Identifiers: chr5:g.13776671T>G (hg19) ; chr5:g.13776562T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13776562T>G , CM000667.2:g.13776562T>G	GRCh38
NC_000005.9:g.13776671T>G , CM000667.1:g.13776671T>G	GRCh37
NC_000005.8:g.13829671T>G	NCBI36
NG_013081.1:g.172919A>C
NG_013081.2:g.172919A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9250A>C MANE Select	ENSP00000265104.4:p.Ile3084Leu
ENST00000681290.1:c.9205A>C	ENSP00000505288.1:p.Ile3069Leu
ENST00000265104.4:c.9250A>C	ENSP00000265104.4:p.Ile3084Leu
NM_001369.2:c.9250A>C	NP_001360.1:p.Ile3084Leu
XM_005248262.2:c.9205A>C	XP_005248319.1:p.Ile3069Leu
XM_005248262.3:c.9358A>C	XP_005248319.2:p.Ile3120Leu
XM_017009177.1:c.9358A>C	XP_016864666.1:p.Ile3120Leu
XM_017009178.1:c.8263A>C	XP_016864667.1:p.Ile2755Leu
XM_017009179.2:c.8263A>C	XP_016864668.1:p.Ile2755Leu
XM_017009180.1:c.9358A>C	XP_016864669.1:p.Ile3120Leu
XM_017009181.1:c.9358A>C	XP_016864670.1:p.Ile3120Leu
XM_017009182.1:c.9358A>C	XP_016864671.1:p.Ile3120Leu
XM_017009183.1:c.9358A>C	XP_016864672.1:p.Ile3120Leu
XM_017009185.1:c.4447A>C	XP_016864674.1:p.Ile1483Leu
XM_017009186.1:c.4000A>C	XP_016864675.1:p.Ile1334Leu
XM_017009188.1:c.3337A>C	XP_016864677.1:p.Ile1113Leu
XM_024454388.1:c.8263A>C	XP_024310156.1:p.Ile2755Leu
XM_024454389.1:c.7852A>C	XP_024310157.1:p.Ile2618Leu
NM_001369.3:c.9250A>C MANE Select	NP_001360.1:p.Ile3084Leu