Canonical Allele Identifier: CA443248597

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 1771389
• ClinVar RCV Id: RCV002396523
• dbSNP Id: rs1254287410
• gnomAD v2: 5-13692105-A-G
• gnomAD v3: 5-13691996-A-G
• gnomAD v4: 5-13691996-A-G
• MyVariant Identifiers: chr5:g.13692105A>G (hg19) ; chr5:g.13691996A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13691996A>G , CM000667.2:g.13691996A>G	GRCh38
NC_000005.9:g.13692105A>G , CM000667.1:g.13692105A>G	GRCh37
NC_000005.8:g.13745105A>G	NCBI36
NG_013081.1:g.257485T>C
NG_013081.2:g.257485T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1196T>C
ENST00000265104.5:c.13863T>C MANE Select	ENSP00000265104.4:p.Cys4621=
ENST00000681290.1:c.13818T>C	ENSP00000505288.1:p.Cys4606=
ENST00000265104.4:c.13863T>C	ENSP00000265104.4:p.Cys4621=
NM_001369.2:c.13863T>C	NP_001360.1:p.Cys4621=
XM_005248262.2:c.13818T>C	XP_005248319.1:p.Cys4606=
XM_005248262.3:c.13971T>C	XP_005248319.2:p.Cys4657=
XM_017009177.1:c.13551T>C	XP_016864666.1:p.Cys4517=
XM_017009178.1:c.12876T>C	XP_016864667.1:p.Cys4292=
XM_017009179.2:c.12876T>C	XP_016864668.1:p.Cys4292=
XM_017009185.1:c.9060T>C	XP_016864674.1:p.Cys3020=
XM_017009186.1:c.8613T>C	XP_016864675.1:p.Cys2871=
XM_017009188.1:c.7950T>C	XP_016864677.1:p.Cys2650=
XM_024454388.1:c.12876T>C	XP_024310156.1:p.Cys4292=
XM_024454389.1:c.12465T>C	XP_024310157.1:p.Cys4155=
NM_001369.3:c.13863T>C MANE Select	NP_001360.1:p.Cys4621=