Canonical Allele Identifier: CA359208503

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13717626A>C (hg19) ; chr5:g.13717517A>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.12503T>G MANE Select	ENSP00000265104.4:p.Val4168Gly
ENST00000681290.1:c.12458T>G	ENSP00000505288.1:p.Val4153Gly
ENST00000265104.4:c.12503T>G	ENSP00000265104.4:p.Val4168Gly
NM_001369.2:c.12503T>G	NP_001360.1:p.Val4168Gly
XM_005248262.2:c.12458T>G	XP_005248319.1:p.Val4153Gly
XM_005248262.3:c.12611T>G	XP_005248319.2:p.Val4204Gly
XM_017009177.1:c.12611T>G	XP_016864666.1:p.Val4204Gly
XM_017009178.1:c.11516T>G	XP_016864667.1:p.Val3839Gly
XM_017009179.2:c.11516T>G	XP_016864668.1:p.Val3839Gly
XM_017009180.1:c.12611T>G	XP_016864669.1:p.Val4204Gly
XM_017009185.1:c.7700T>G	XP_016864674.1:p.Val2567Gly
XM_017009186.1:c.7253T>G	XP_016864675.1:p.Val2418Gly
XM_017009188.1:c.6590T>G	XP_016864677.1:p.Val2197Gly
XM_024454388.1:c.11516T>G	XP_024310156.1:p.Val3839Gly
XM_024454389.1:c.11105T>G	XP_024310157.1:p.Val3702Gly
NM_001369.3:c.12503T>G MANE Select	NP_001360.1:p.Val4168Gly