Canonical Allele Identifier: CA359208759

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13776559-C-A
• MyVariant Identifiers: chr5:g.13776668C>A (hg19) ; chr5:g.13776559C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13776559C>A , CM000667.2:g.13776559C>A	GRCh38
NC_000005.9:g.13776668C>A , CM000667.1:g.13776668C>A	GRCh37
NC_000005.8:g.13829668C>A	NCBI36
NG_013081.1:g.172922G>T
NG_013081.2:g.172922G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9253G>T MANE Select	ENSP00000265104.4:p.Val3085Leu
ENST00000681290.1:c.9208G>T	ENSP00000505288.1:p.Val3070Leu
ENST00000265104.4:c.9253G>T	ENSP00000265104.4:p.Val3085Leu
NM_001369.2:c.9253G>T	NP_001360.1:p.Val3085Leu
XM_005248262.2:c.9208G>T	XP_005248319.1:p.Val3070Leu
XM_005248262.3:c.9361G>T	XP_005248319.2:p.Val3121Leu
XM_017009177.1:c.9361G>T	XP_016864666.1:p.Val3121Leu
XM_017009178.1:c.8266G>T	XP_016864667.1:p.Val2756Leu
XM_017009179.2:c.8266G>T	XP_016864668.1:p.Val2756Leu
XM_017009180.1:c.9361G>T	XP_016864669.1:p.Val3121Leu
XM_017009181.1:c.9361G>T	XP_016864670.1:p.Val3121Leu
XM_017009182.1:c.9361G>T	XP_016864671.1:p.Val3121Leu
XM_017009183.1:c.9361G>T	XP_016864672.1:p.Val3121Leu
XM_017009185.1:c.4450G>T	XP_016864674.1:p.Val1484Leu
XM_017009186.1:c.4003G>T	XP_016864675.1:p.Val1335Leu
XM_017009188.1:c.3340G>T	XP_016864677.1:p.Val1114Leu
XM_024454388.1:c.8266G>T	XP_024310156.1:p.Val2756Leu
XM_024454389.1:c.7855G>T	XP_024310157.1:p.Val2619Leu
NM_001369.3:c.9253G>T MANE Select	NP_001360.1:p.Val3085Leu