Canonical Allele Identifier: CA359208506

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13717517-A-G
• MyVariant Identifiers: chr5:g.13717626A>G (hg19) ; chr5:g.13717517A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13717517A>G , CM000667.2:g.13717517A>G	GRCh38
NC_000005.9:g.13717626A>G , CM000667.1:g.13717626A>G	GRCh37
NC_000005.8:g.13770626A>G	NCBI36
NG_013081.1:g.231964T>C
NG_013081.2:g.231964T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.12503T>C MANE Select	ENSP00000265104.4:p.Val4168Ala
ENST00000681290.1:c.12458T>C	ENSP00000505288.1:p.Val4153Ala
ENST00000265104.4:c.12503T>C	ENSP00000265104.4:p.Val4168Ala
NM_001369.2:c.12503T>C	NP_001360.1:p.Val4168Ala
XM_005248262.2:c.12458T>C	XP_005248319.1:p.Val4153Ala
XM_005248262.3:c.12611T>C	XP_005248319.2:p.Val4204Ala
XM_017009177.1:c.12611T>C	XP_016864666.1:p.Val4204Ala
XM_017009178.1:c.11516T>C	XP_016864667.1:p.Val3839Ala
XM_017009179.2:c.11516T>C	XP_016864668.1:p.Val3839Ala
XM_017009180.1:c.12611T>C	XP_016864669.1:p.Val4204Ala
XM_017009185.1:c.7700T>C	XP_016864674.1:p.Val2567Ala
XM_017009186.1:c.7253T>C	XP_016864675.1:p.Val2418Ala
XM_017009188.1:c.6590T>C	XP_016864677.1:p.Val2197Ala
XM_024454388.1:c.11516T>C	XP_024310156.1:p.Val3839Ala
XM_024454389.1:c.11105T>C	XP_024310157.1:p.Val3702Ala
NM_001369.3:c.12503T>C MANE Select	NP_001360.1:p.Val4168Ala