Canonical Allele Identifier: CA1073393147

Gene: DNAH5

Linked Data

• dbSNP Id: rs1677202777
• gnomAD v3: 5-13701172-C-T
• gnomAD v4: 5-13701172-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13701172C>T , CM000667.2:g.13701172C>T	GRCh38
NC_000005.9:g.13701281C>T , CM000667.1:g.13701281C>T	GRCh37
NC_000005.8:g.13754281C>T	NCBI36
NG_013081.1:g.248309G>A
NG_013081.2:g.248309G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.824+112G>A
ENST00000265104.5:c.13491+112G>A MANE Select	ENSP00000265104.4:n.13491+112G>A
ENST00000681290.1:c.13446+112G>A	ENSP00000505288.1:n.13446+112G>A
ENST00000265104.4:c.13491+112G>A	ENSP00000265104.4:n.13491+112G>A
NM_001369.2:c.13491+112G>A	NP_001360.1:n.13491+112G>A
XM_005248262.2:c.13446+112G>A	XP_005248319.1:n.13446+112G>A
XM_005248262.3:c.13599+112G>A	XP_005248319.2:n.13599+112G>A
XM_017009177.1:c.13179+112G>A	XP_016864666.1:n.13179+112G>A
XM_017009178.1:c.12504+112G>A	XP_016864667.1:n.12504+112G>A
XM_017009179.2:c.12504+112G>A	XP_016864668.1:n.12504+112G>A
XM_017009185.1:c.8688+112G>A	XP_016864674.1:n.8688+112G>A
XM_017009186.1:c.8241+112G>A	XP_016864675.1:n.8241+112G>A
XM_017009188.1:c.7578+112G>A	XP_016864677.1:n.7578+112G>A
XM_024454388.1:c.12504+112G>A	XP_024310156.1:n.12504+112G>A
XM_024454389.1:c.12093+112G>A	XP_024310157.1:n.12093+112G>A
NM_001369.3:c.13491+112G>A MANE Select	NP_001360.1:n.13491+112G>A