Canonical Allele Identifier: CA359188558

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13692024-C-T
• MyVariant Identifiers: chr5:g.13692133C>T (hg19) ; chr5:g.13692024C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692024C>T , CM000667.2:g.13692024C>T	GRCh38
NC_000005.9:g.13692133C>T , CM000667.1:g.13692133C>T	GRCh37
NC_000005.8:g.13745133C>T	NCBI36
NG_013081.1:g.257457G>A
NG_013081.2:g.257457G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1168G>A
ENST00000265104.5:c.13835G>A MANE Select	ENSP00000265104.4:p.Trp4612Ter
ENST00000681290.1:c.13790G>A	ENSP00000505288.1:p.Trp4597Ter
ENST00000265104.4:c.13835G>A	ENSP00000265104.4:p.Trp4612Ter
NM_001369.2:c.13835G>A	NP_001360.1:p.Trp4612Ter
XM_005248262.2:c.13790G>A	XP_005248319.1:p.Trp4597Ter
XM_005248262.3:c.13943G>A	XP_005248319.2:p.Trp4648Ter
XM_017009177.1:c.13523G>A	XP_016864666.1:p.Trp4508Ter
XM_017009178.1:c.12848G>A	XP_016864667.1:p.Trp4283Ter
XM_017009179.2:c.12848G>A	XP_016864668.1:p.Trp4283Ter
XM_017009185.1:c.9032G>A	XP_016864674.1:p.Trp3011Ter
XM_017009186.1:c.8585G>A	XP_016864675.1:p.Trp2862Ter
XM_017009188.1:c.7922G>A	XP_016864677.1:p.Trp2641Ter
XM_024454388.1:c.12848G>A	XP_024310156.1:p.Trp4283Ter
XM_024454389.1:c.12437G>A	XP_024310157.1:p.Trp4146Ter
NM_001369.3:c.13835G>A MANE Select	NP_001360.1:p.Trp4612Ter