Canonical Allele Identifier: CA359197592

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13708266-T-A
• MyVariant Identifiers: chr5:g.13708375T>A (hg19) ; chr5:g.13708266T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13708266T>A , CM000667.2:g.13708266T>A	GRCh38
NC_000005.9:g.13708375T>A , CM000667.1:g.13708375T>A	GRCh37
NC_000005.8:g.13761375T>A	NCBI36
NG_013081.1:g.241215A>T
NG_013081.2:g.241215A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000683611.1:n.528A>T
ENST00000265104.5:c.13195A>T MANE Select	ENSP00000265104.4:p.Arg4399Ter
ENST00000681290.1:c.13150A>T	ENSP00000505288.1:p.Arg4384Ter
ENST00000265104.4:c.13195A>T	ENSP00000265104.4:p.Arg4399Ter
NM_001369.2:c.13195A>T	NP_001360.1:p.Arg4399Ter
XM_005248262.2:c.13150A>T	XP_005248319.1:p.Arg4384Ter
XM_005248262.3:c.13303A>T	XP_005248319.2:p.Arg4435Ter
XM_017009177.1:c.12883A>T	XP_016864666.1:p.Arg4295Ter
XM_017009178.1:c.12208A>T	XP_016864667.1:p.Arg4070Ter
XM_017009179.2:c.12208A>T	XP_016864668.1:p.Arg4070Ter
XM_017009185.1:c.8392A>T	XP_016864674.1:p.Arg2798Ter
XM_017009186.1:c.7945A>T	XP_016864675.1:p.Arg2649Ter
XM_017009188.1:c.7282A>T	XP_016864677.1:p.Arg2428Ter
XM_024454388.1:c.12208A>T	XP_024310156.1:p.Arg4070Ter
XM_024454389.1:c.11797A>T	XP_024310157.1:p.Arg3933Ter
NM_001369.3:c.13195A>T MANE Select	NP_001360.1:p.Arg4399Ter