Canonical Allele Identifier: CA359197125

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 2815900
• ClinVar RCV Id: RCV003649839
• MyVariant Identifiers: chr5:g.13708338A>G (hg19) ; chr5:g.13708229A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13708229A>G , CM000667.2:g.13708229A>G	GRCh38
NC_000005.9:g.13708338A>G , CM000667.1:g.13708338A>G	GRCh37
NC_000005.8:g.13761338A>G	NCBI36
NG_013081.1:g.241252T>C
NG_013081.2:g.241252T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.565T>C
ENST00000265104.5:c.13232T>C MANE Select	ENSP00000265104.4:p.Leu4411Pro
ENST00000681290.1:c.13187T>C	ENSP00000505288.1:p.Leu4396Pro
ENST00000265104.4:c.13232T>C	ENSP00000265104.4:p.Leu4411Pro
NM_001369.2:c.13232T>C	NP_001360.1:p.Leu4411Pro
XM_005248262.2:c.13187T>C	XP_005248319.1:p.Leu4396Pro
XM_005248262.3:c.13340T>C	XP_005248319.2:p.Leu4447Pro
XM_017009177.1:c.12920T>C	XP_016864666.1:p.Leu4307Pro
XM_017009178.1:c.12245T>C	XP_016864667.1:p.Leu4082Pro
XM_017009179.2:c.12245T>C	XP_016864668.1:p.Leu4082Pro
XM_017009185.1:c.8429T>C	XP_016864674.1:p.Leu2810Pro
XM_017009186.1:c.7982T>C	XP_016864675.1:p.Leu2661Pro
XM_017009188.1:c.7319T>C	XP_016864677.1:p.Leu2440Pro
XM_024454388.1:c.12245T>C	XP_024310156.1:p.Leu4082Pro
XM_024454389.1:c.11834T>C	XP_024310157.1:p.Leu3945Pro
NM_001369.3:c.13232T>C MANE Select	NP_001360.1:p.Leu4411Pro