Canonical Allele Identifier: CA359188538

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 1771349
• ClinVar RCV Id: RCV002381227
• MyVariant Identifiers: chr5:g.13692124C>G (hg19) ; chr5:g.13692015C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692015C>G , CM000667.2:g.13692015C>G	GRCh38
NC_000005.9:g.13692124C>G , CM000667.1:g.13692124C>G	GRCh37
NC_000005.8:g.13745124C>G	NCBI36
NG_013081.1:g.257466G>C
NG_013081.2:g.257466G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1177G>C
ENST00000265104.5:c.13844G>C MANE Select	ENSP00000265104.4:p.Arg4615Pro
ENST00000681290.1:c.13799G>C	ENSP00000505288.1:p.Arg4600Pro
ENST00000265104.4:c.13844G>C	ENSP00000265104.4:p.Arg4615Pro
NM_001369.2:c.13844G>C	NP_001360.1:p.Arg4615Pro
XM_005248262.2:c.13799G>C	XP_005248319.1:p.Arg4600Pro
XM_005248262.3:c.13952G>C	XP_005248319.2:p.Arg4651Pro
XM_017009177.1:c.13532G>C	XP_016864666.1:p.Arg4511Pro
XM_017009178.1:c.12857G>C	XP_016864667.1:p.Arg4286Pro
XM_017009179.2:c.12857G>C	XP_016864668.1:p.Arg4286Pro
XM_017009185.1:c.9041G>C	XP_016864674.1:p.Arg3014Pro
XM_017009186.1:c.8594G>C	XP_016864675.1:p.Arg2865Pro
XM_017009188.1:c.7931G>C	XP_016864677.1:p.Arg2644Pro
XM_024454388.1:c.12857G>C	XP_024310156.1:p.Arg4286Pro
XM_024454389.1:c.12446G>C	XP_024310157.1:p.Arg4149Pro
NM_001369.3:c.13844G>C MANE Select	NP_001360.1:p.Arg4615Pro