Canonical Allele Identifier: CA443535672

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 2920261
• ClinVar RCV Id: RCV003653158
• dbSNP Id: rs1251504067
• gnomAD v2: 5-13776729-A-G
• gnomAD v3: 5-13776620-A-G
• gnomAD v4: 5-13776620-A-G
• MyVariant Identifiers: chr5:g.13776729A>G (hg19) ; chr5:g.13776620A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13776620A>G , CM000667.2:g.13776620A>G	GRCh38
NC_000005.9:g.13776729A>G , CM000667.1:g.13776729A>G	GRCh37
NC_000005.8:g.13829729A>G	NCBI36
NG_013081.1:g.172861T>C
NG_013081.2:g.172861T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9192T>C MANE Select	ENSP00000265104.4:p.Leu3064=
ENST00000681290.1:c.9147T>C	ENSP00000505288.1:p.Leu3049=
ENST00000265104.4:c.9192T>C	ENSP00000265104.4:p.Leu3064=
NM_001369.2:c.9192T>C	NP_001360.1:p.Leu3064=
XM_005248262.2:c.9147T>C	XP_005248319.1:p.Leu3049=
XM_005248262.3:c.9300T>C	XP_005248319.2:p.Leu3100=
XM_017009177.1:c.9300T>C	XP_016864666.1:p.Leu3100=
XM_017009178.1:c.8205T>C	XP_016864667.1:p.Leu2735=
XM_017009179.2:c.8205T>C	XP_016864668.1:p.Leu2735=
XM_017009180.1:c.9300T>C	XP_016864669.1:p.Leu3100=
XM_017009181.1:c.9300T>C	XP_016864670.1:p.Leu3100=
XM_017009182.1:c.9300T>C	XP_016864671.1:p.Leu3100=
XM_017009183.1:c.9300T>C	XP_016864672.1:p.Leu3100=
XM_017009185.1:c.4389T>C	XP_016864674.1:p.Leu1463=
XM_017009186.1:c.3942T>C	XP_016864675.1:p.Leu1314=
XM_017009188.1:c.3279T>C	XP_016864677.1:p.Leu1093=
XM_024454388.1:c.8205T>C	XP_024310156.1:p.Leu2735=
XM_024454389.1:c.7794T>C	XP_024310157.1:p.Leu2598=
XR_001742034.1:n.9186T>C
NM_001369.3:c.9192T>C MANE Select	NP_001360.1:p.Leu3064=