Canonical Allele Identifier: CA3202101

Gene: DNAH5

Linked Data

• dbSNP Id: rs770455022
• ExAC: 5:13752374 A / T
• gnomAD v2: 5-13752374-A-T
• gnomAD v4: 5-13752265-A-T
• MyVariant Identifiers: chr5:g.13752374A>T (hg19) ; chr5:g.13752265A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13752265A>T , CM000667.2:g.13752265A>T	GRCh38
NC_000005.9:g.13752374A>T , CM000667.1:g.13752374A>T	GRCh37
NC_000005.8:g.13805374A>T	NCBI36
NG_013081.1:g.197216T>A
NG_013081.2:g.197216T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10897T>A MANE Select	ENSP00000265104.4:p.Phe3633Ile
ENST00000681290.1:c.10852T>A	ENSP00000505288.1:p.Phe3618Ile
ENST00000265104.4:c.10897T>A	ENSP00000265104.4:p.Phe3633Ile
NM_001369.2:c.10897T>A	NP_001360.1:p.Phe3633Ile
XM_005248262.2:c.10852T>A	XP_005248319.1:p.Phe3618Ile
XM_005248262.3:c.11005T>A	XP_005248319.2:p.Phe3669Ile
XM_017009177.1:c.11005T>A	XP_016864666.1:p.Phe3669Ile
XM_017009178.1:c.9910T>A	XP_016864667.1:p.Phe3304Ile
XM_017009179.2:c.9910T>A	XP_016864668.1:p.Phe3304Ile
XM_017009180.1:c.11005T>A	XP_016864669.1:p.Phe3669Ile
XM_017009181.1:c.11005T>A	XP_016864670.1:p.Phe3669Ile
XM_017009182.1:c.11005T>A	XP_016864671.1:p.Phe3669Ile
XM_017009185.1:c.6094T>A	XP_016864674.1:p.Phe2032Ile
XM_017009186.1:c.5647T>A	XP_016864675.1:p.Phe1883Ile
XM_017009188.1:c.4984T>A	XP_016864677.1:p.Phe1662Ile
XM_024454388.1:c.9910T>A	XP_024310156.1:p.Phe3304Ile
XM_024454389.1:c.9499T>A	XP_024310157.1:p.Phe3167Ile
NM_001369.3:c.10897T>A MANE Select	NP_001360.1:p.Phe3633Ile