Canonical Allele Identifier: CA359197249

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13708241-A-G
• MyVariant Identifiers: chr5:g.13708350A>G (hg19) ; chr5:g.13708241A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13708241A>G , CM000667.2:g.13708241A>G	GRCh38
NC_000005.9:g.13708350A>G , CM000667.1:g.13708350A>G	GRCh37
NC_000005.8:g.13761350A>G	NCBI36
NG_013081.1:g.241240T>C
NG_013081.2:g.241240T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000683611.1:n.553T>C
ENST00000265104.5:c.13220T>C MANE Select	ENSP00000265104.4:p.Val4407Ala
ENST00000681290.1:c.13175T>C	ENSP00000505288.1:p.Val4392Ala
ENST00000265104.4:c.13220T>C	ENSP00000265104.4:p.Val4407Ala
NM_001369.2:c.13220T>C	NP_001360.1:p.Val4407Ala
XM_005248262.2:c.13175T>C	XP_005248319.1:p.Val4392Ala
XM_005248262.3:c.13328T>C	XP_005248319.2:p.Val4443Ala
XM_017009177.1:c.12908T>C	XP_016864666.1:p.Val4303Ala
XM_017009178.1:c.12233T>C	XP_016864667.1:p.Val4078Ala
XM_017009179.2:c.12233T>C	XP_016864668.1:p.Val4078Ala
XM_017009185.1:c.8417T>C	XP_016864674.1:p.Val2806Ala
XM_017009186.1:c.7970T>C	XP_016864675.1:p.Val2657Ala
XM_017009188.1:c.7307T>C	XP_016864677.1:p.Val2436Ala
XM_024454388.1:c.12233T>C	XP_024310156.1:p.Val4078Ala
XM_024454389.1:c.11822T>C	XP_024310157.1:p.Val3941Ala
NM_001369.3:c.13220T>C MANE Select	NP_001360.1:p.Val4407Ala