Canonical Allele Identifier: CA359207078

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13717395-G-T
• MyVariant Identifiers: chr5:g.13717504G>T (hg19) ; chr5:g.13717395G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13717395G>T , CM000667.2:g.13717395G>T	GRCh38
NC_000005.9:g.13717504G>T , CM000667.1:g.13717504G>T	GRCh37
NC_000005.8:g.13770504G>T	NCBI36
NG_013081.1:g.232086C>A
NG_013081.2:g.232086C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.12625C>A MANE Select	ENSP00000265104.4:p.Pro4209Thr
ENST00000681290.1:c.12580C>A	ENSP00000505288.1:p.Pro4194Thr
ENST00000265104.4:c.12625C>A	ENSP00000265104.4:p.Pro4209Thr
NM_001369.2:c.12625C>A	NP_001360.1:p.Pro4209Thr
XM_005248262.2:c.12580C>A	XP_005248319.1:p.Pro4194Thr
XM_005248262.3:c.12733C>A	XP_005248319.2:p.Pro4245Thr
XM_017009177.1:c.12733C>A	XP_016864666.1:p.Pro4245Thr
XM_017009178.1:c.11638C>A	XP_016864667.1:p.Pro3880Thr
XM_017009179.2:c.11638C>A	XP_016864668.1:p.Pro3880Thr
XM_017009180.1:c.12733C>A	XP_016864669.1:p.Pro4245Thr
XM_017009185.1:c.7822C>A	XP_016864674.1:p.Pro2608Thr
XM_017009186.1:c.7375C>A	XP_016864675.1:p.Pro2459Thr
XM_017009188.1:c.6712C>A	XP_016864677.1:p.Pro2238Thr
XM_024454388.1:c.11638C>A	XP_024310156.1:p.Pro3880Thr
XM_024454389.1:c.11227C>A	XP_024310157.1:p.Pro3743Thr
NM_001369.3:c.12625C>A MANE Select	NP_001360.1:p.Pro4209Thr