Canonical Allele Identifier: CA359188553

Gene: DNAH5

Linked Data

• dbSNP Id: rs2126331312
• MyVariant Identifiers: chr5:g.13692132C>A (hg19) ; chr5:g.13692023C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692023C>A , CM000667.2:g.13692023C>A	GRCh38
NC_000005.9:g.13692132C>A , CM000667.1:g.13692132C>A	GRCh37
NC_000005.8:g.13745132C>A	NCBI36
NG_013081.1:g.257458G>T
NG_013081.2:g.257458G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1169G>T
ENST00000265104.5:c.13836G>T MANE Select	ENSP00000265104.4:p.Trp4612Cys
ENST00000681290.1:c.13791G>T	ENSP00000505288.1:p.Trp4597Cys
ENST00000265104.4:c.13836G>T	ENSP00000265104.4:p.Trp4612Cys
NM_001369.2:c.13836G>T	NP_001360.1:p.Trp4612Cys
XM_005248262.2:c.13791G>T	XP_005248319.1:p.Trp4597Cys
XM_005248262.3:c.13944G>T	XP_005248319.2:p.Trp4648Cys
XM_017009177.1:c.13524G>T	XP_016864666.1:p.Trp4508Cys
XM_017009178.1:c.12849G>T	XP_016864667.1:p.Trp4283Cys
XM_017009179.2:c.12849G>T	XP_016864668.1:p.Trp4283Cys
XM_017009185.1:c.9033G>T	XP_016864674.1:p.Trp3011Cys
XM_017009186.1:c.8586G>T	XP_016864675.1:p.Trp2862Cys
XM_017009188.1:c.7923G>T	XP_016864677.1:p.Trp2641Cys
XM_024454388.1:c.12849G>T	XP_024310156.1:p.Trp4283Cys
XM_024454389.1:c.12438G>T	XP_024310157.1:p.Trp4146Cys
NM_001369.3:c.13836G>T MANE Select	NP_001360.1:p.Trp4612Cys