Canonical Allele Identifier: CA359198344

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13708324-C-G
• MyVariant Identifiers: chr5:g.13708433C>G (hg19) ; chr5:g.13708324C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13708324C>G , CM000667.2:g.13708324C>G	GRCh38
NC_000005.9:g.13708433C>G , CM000667.1:g.13708433C>G	GRCh37
NC_000005.8:g.13761433C>G	NCBI36
NG_013081.1:g.241157G>C
NG_013081.2:g.241157G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.470G>C
ENST00000265104.5:c.13137G>C MANE Select	ENSP00000265104.4:p.Arg4379Ser
ENST00000681290.1:c.13092G>C	ENSP00000505288.1:p.Arg4364Ser
ENST00000265104.4:c.13137G>C	ENSP00000265104.4:p.Arg4379Ser
NM_001369.2:c.13137G>C	NP_001360.1:p.Arg4379Ser
XM_005248262.2:c.13092G>C	XP_005248319.1:p.Arg4364Ser
XM_005248262.3:c.13245G>C	XP_005248319.2:p.Arg4415Ser
XM_017009177.1:c.12825G>C	XP_016864666.1:p.Arg4275Ser
XM_017009178.1:c.12150G>C	XP_016864667.1:p.Arg4050Ser
XM_017009179.2:c.12150G>C	XP_016864668.1:p.Arg4050Ser
XM_017009185.1:c.8334G>C	XP_016864674.1:p.Arg2778Ser
XM_017009186.1:c.7887G>C	XP_016864675.1:p.Arg2629Ser
XM_017009188.1:c.7224G>C	XP_016864677.1:p.Arg2408Ser
XM_024454388.1:c.12150G>C	XP_024310156.1:p.Arg4050Ser
XM_024454389.1:c.11739G>C	XP_024310157.1:p.Arg3913Ser
NM_001369.3:c.13137G>C MANE Select	NP_001360.1:p.Arg4379Ser