Canonical Allele Identifier: CA359208751

Gene: DNAH5

Linked Data

• COSMIC: COSM3608992
• MyVariant Identifiers: chr5:g.13776665G>A (hg19) ; chr5:g.13776556G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13776556G>A , CM000667.2:g.13776556G>A	GRCh38
NC_000005.9:g.13776665G>A , CM000667.1:g.13776665G>A	GRCh37
NC_000005.8:g.13829665G>A	NCBI36
NG_013081.1:g.172925C>T
NG_013081.2:g.172925C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9256C>T MANE Select	ENSP00000265104.4:p.Leu3086Phe
ENST00000681290.1:c.9211C>T	ENSP00000505288.1:p.Leu3071Phe
ENST00000265104.4:c.9256C>T	ENSP00000265104.4:p.Leu3086Phe
NM_001369.2:c.9256C>T	NP_001360.1:p.Leu3086Phe
XM_005248262.2:c.9211C>T	XP_005248319.1:p.Leu3071Phe
XM_005248262.3:c.9364C>T	XP_005248319.2:p.Leu3122Phe
XM_017009177.1:c.9364C>T	XP_016864666.1:p.Leu3122Phe
XM_017009178.1:c.8269C>T	XP_016864667.1:p.Leu2757Phe
XM_017009179.2:c.8269C>T	XP_016864668.1:p.Leu2757Phe
XM_017009180.1:c.9364C>T	XP_016864669.1:p.Leu3122Phe
XM_017009181.1:c.9364C>T	XP_016864670.1:p.Leu3122Phe
XM_017009182.1:c.9364C>T	XP_016864671.1:p.Leu3122Phe
XM_017009183.1:c.9364C>T	XP_016864672.1:p.Leu3122Phe
XM_017009185.1:c.4453C>T	XP_016864674.1:p.Leu1485Phe
XM_017009186.1:c.4006C>T	XP_016864675.1:p.Leu1336Phe
XM_017009188.1:c.3343C>T	XP_016864677.1:p.Leu1115Phe
XM_024454388.1:c.8269C>T	XP_024310156.1:p.Leu2757Phe
XM_024454389.1:c.7858C>T	XP_024310157.1:p.Leu2620Phe
NM_001369.3:c.9256C>T MANE Select	NP_001360.1:p.Leu3086Phe