Canonical Allele Identifier: CA113908347

Gene: DNAH5

Linked Data

• dbSNP Id: rs896482430
• gnomAD v4: 5-13701206-G-A
• MyVariant Identifiers: chr5:g.13701315G>A (hg19) ; chr5:g.13701206G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13701206G>A , CM000667.2:g.13701206G>A	GRCh38
NC_000005.9:g.13701315G>A , CM000667.1:g.13701315G>A	GRCh37
NC_000005.8:g.13754315G>A	NCBI36
NG_013081.1:g.248275C>T
NG_013081.2:g.248275C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.824+78C>T
ENST00000265104.5:c.13491+78C>T MANE Select	ENSP00000265104.4:n.13491+78C>T
ENST00000681290.1:c.13446+78C>T	ENSP00000505288.1:n.13446+78C>T
ENST00000265104.4:c.13491+78C>T	ENSP00000265104.4:n.13491+78C>T
NM_001369.2:c.13491+78C>T	NP_001360.1:n.13491+78C>T
XM_005248262.2:c.13446+78C>T	XP_005248319.1:n.13446+78C>T
XM_005248262.3:c.13599+78C>T	XP_005248319.2:n.13599+78C>T
XM_017009177.1:c.13179+78C>T	XP_016864666.1:n.13179+78C>T
XM_017009178.1:c.12504+78C>T	XP_016864667.1:n.12504+78C>T
XM_017009179.2:c.12504+78C>T	XP_016864668.1:n.12504+78C>T
XM_017009185.1:c.8688+78C>T	XP_016864674.1:n.8688+78C>T
XM_017009186.1:c.8241+78C>T	XP_016864675.1:n.8241+78C>T
XM_017009188.1:c.7578+78C>T	XP_016864677.1:n.7578+78C>T
XM_024454388.1:c.12504+78C>T	XP_024310156.1:n.12504+78C>T
XM_024454389.1:c.12093+78C>T	XP_024310157.1:n.12093+78C>T
NM_001369.3:c.13491+78C>T MANE Select	NP_001360.1:n.13491+78C>T