Canonical Allele Identifier: CA443535882

Gene: DNAH5

Linked Data

• dbSNP Id: rs1398975617
• gnomAD v2: 5-13776666-C-T
• gnomAD v3: 5-13776557-C-T
• gnomAD v4: 5-13776557-C-T
• MyVariant Identifiers: chr5:g.13776666C>T (hg19) ; chr5:g.13776557C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13776557C>T , CM000667.2:g.13776557C>T	GRCh38
NC_000005.9:g.13776666C>T , CM000667.1:g.13776666C>T	GRCh37
NC_000005.8:g.13829666C>T	NCBI36
NG_013081.1:g.172924G>A
NG_013081.2:g.172924G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9255G>A MANE Select	ENSP00000265104.4:p.Val3085=
ENST00000681290.1:c.9210G>A	ENSP00000505288.1:p.Val3070=
ENST00000265104.4:c.9255G>A	ENSP00000265104.4:p.Val3085=
NM_001369.2:c.9255G>A	NP_001360.1:p.Val3085=
XM_005248262.2:c.9210G>A	XP_005248319.1:p.Val3070=
XM_005248262.3:c.9363G>A	XP_005248319.2:p.Val3121=
XM_017009177.1:c.9363G>A	XP_016864666.1:p.Val3121=
XM_017009178.1:c.8268G>A	XP_016864667.1:p.Val2756=
XM_017009179.2:c.8268G>A	XP_016864668.1:p.Val2756=
XM_017009180.1:c.9363G>A	XP_016864669.1:p.Val3121=
XM_017009181.1:c.9363G>A	XP_016864670.1:p.Val3121=
XM_017009182.1:c.9363G>A	XP_016864671.1:p.Val3121=
XM_017009183.1:c.9363G>A	XP_016864672.1:p.Val3121=
XM_017009185.1:c.4452G>A	XP_016864674.1:p.Val1484=
XM_017009186.1:c.4005G>A	XP_016864675.1:p.Val1335=
XM_017009188.1:c.3342G>A	XP_016864677.1:p.Val1114=
XM_024454388.1:c.8268G>A	XP_024310156.1:p.Val2756=
XM_024454389.1:c.7857G>A	XP_024310157.1:p.Val2619=
NM_001369.3:c.9255G>A MANE Select	NP_001360.1:p.Val3085=