Canonical Allele Identifier: CA359197417

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13708255-C-G
• MyVariant Identifiers: chr5:g.13708364C>G (hg19) ; chr5:g.13708255C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13708255C>G , CM000667.2:g.13708255C>G	GRCh38
NC_000005.9:g.13708364C>G , CM000667.1:g.13708364C>G	GRCh37
NC_000005.8:g.13761364C>G	NCBI36
NG_013081.1:g.241226G>C
NG_013081.2:g.241226G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.539G>C
ENST00000265104.5:c.13206G>C MANE Select	ENSP00000265104.4:p.Arg4402Ser
ENST00000681290.1:c.13161G>C	ENSP00000505288.1:p.Arg4387Ser
ENST00000265104.4:c.13206G>C	ENSP00000265104.4:p.Arg4402Ser
NM_001369.2:c.13206G>C	NP_001360.1:p.Arg4402Ser
XM_005248262.2:c.13161G>C	XP_005248319.1:p.Arg4387Ser
XM_005248262.3:c.13314G>C	XP_005248319.2:p.Arg4438Ser
XM_017009177.1:c.12894G>C	XP_016864666.1:p.Arg4298Ser
XM_017009178.1:c.12219G>C	XP_016864667.1:p.Arg4073Ser
XM_017009179.2:c.12219G>C	XP_016864668.1:p.Arg4073Ser
XM_017009185.1:c.8403G>C	XP_016864674.1:p.Arg2801Ser
XM_017009186.1:c.7956G>C	XP_016864675.1:p.Arg2652Ser
XM_017009188.1:c.7293G>C	XP_016864677.1:p.Arg2431Ser
XM_024454388.1:c.12219G>C	XP_024310156.1:p.Arg4073Ser
XM_024454389.1:c.11808G>C	XP_024310157.1:p.Arg3936Ser
NM_001369.3:c.13206G>C MANE Select	NP_001360.1:p.Arg4402Ser