Canonical Allele Identifier: CA1073389297

Gene: DNAH5

Linked Data

• dbSNP Id: rs1740706332
• gnomAD v3: 5-13691670-C-T
• gnomAD v4: 5-13691670-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13691670C>T , CM000667.2:g.13691670C>T	GRCh38
NC_000005.9:g.13691779C>T , CM000667.1:g.13691779C>T	GRCh37
NC_000005.8:g.13744779C>T	NCBI36
NG_013081.1:g.257811G>A
NG_013081.2:g.257811G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1522G>A
ENST00000265104.5:c.*314G>A MANE Select	ENSP00000265104.4:n.*314G>A
ENST00000681290.1:c.*314G>A	ENSP00000505288.1:n.*314G>A
ENST00000265104.4:c.*314G>A	ENSP00000265104.4:n.*314G>A
NM_001369.2:c.*314G>A	NP_001360.1:n.*314G>A
XM_005248262.2:c.*314G>A	XP_005248319.1:n.*314G>A
XM_005248262.3:c.*314G>A	XP_005248319.2:n.*314G>A
XM_017009177.1:c.*314G>A	XP_016864666.1:n.*314G>A
XM_017009178.1:c.*314G>A	XP_016864667.1:n.*314G>A
XM_017009179.2:c.*314G>A	XP_016864668.1:n.*314G>A
XM_017009185.1:c.*314G>A	XP_016864674.1:n.*314G>A
XM_017009186.1:c.*314G>A	XP_016864675.1:n.*314G>A
XM_017009188.1:c.*314G>A	XP_016864677.1:n.*314G>A
XM_024454388.1:c.*314G>A	XP_024310156.1:n.*314G>A
XM_024454389.1:c.*314G>A	XP_024310157.1:n.*314G>A
NM_001369.3:c.*314G>A MANE Select	NP_001360.1:n.*314G>A