Canonical Allele Identifier: CA359208679

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13776548-G-C
• MyVariant Identifiers: chr5:g.13776657G>C (hg19) ; chr5:g.13776548G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13776548G>C , CM000667.2:g.13776548G>C	GRCh38
NC_000005.9:g.13776657G>C , CM000667.1:g.13776657G>C	GRCh37
NC_000005.8:g.13829657G>C	NCBI36
NG_013081.1:g.172933C>G
NG_013081.2:g.172933C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9264C>G MANE Select	ENSP00000265104.4:p.Phe3088Leu
ENST00000681290.1:c.9219C>G	ENSP00000505288.1:p.Phe3073Leu
ENST00000265104.4:c.9264C>G	ENSP00000265104.4:p.Phe3088Leu
NM_001369.2:c.9264C>G	NP_001360.1:p.Phe3088Leu
XM_005248262.2:c.9219C>G	XP_005248319.1:p.Phe3073Leu
XM_005248262.3:c.9372C>G	XP_005248319.2:p.Phe3124Leu
XM_017009177.1:c.9372C>G	XP_016864666.1:p.Phe3124Leu
XM_017009178.1:c.8277C>G	XP_016864667.1:p.Phe2759Leu
XM_017009179.2:c.8277C>G	XP_016864668.1:p.Phe2759Leu
XM_017009180.1:c.9372C>G	XP_016864669.1:p.Phe3124Leu
XM_017009181.1:c.9372C>G	XP_016864670.1:p.Phe3124Leu
XM_017009182.1:c.9372C>G	XP_016864671.1:p.Phe3124Leu
XM_017009183.1:c.9372C>G	XP_016864672.1:p.Phe3124Leu
XM_017009185.1:c.4461C>G	XP_016864674.1:p.Phe1487Leu
XM_017009186.1:c.4014C>G	XP_016864675.1:p.Phe1338Leu
XM_017009188.1:c.3351C>G	XP_016864677.1:p.Phe1117Leu
XM_024454388.1:c.8277C>G	XP_024310156.1:p.Phe2759Leu
XM_024454389.1:c.7866C>G	XP_024310157.1:p.Phe2622Leu
NM_001369.3:c.9264C>G MANE Select	NP_001360.1:p.Phe3088Leu