Canonical Allele Identifier: CA3202276

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 227322
• ClinVar RCV Id: RCV000222754 ; RCV000382477 ; RCV001095007
• dbSNP Id: rs149133845
• ExAC: 5:13759051 C / T
• gnomAD v2: 5-13759051-C-T
• gnomAD v3: 5-13758942-C-T
• gnomAD v4: 5-13758942-C-T
• MyVariant Identifiers: chr5:g.13759051C>T (hg19) ; chr5:g.13758942C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13758942C>T , CM000667.2:g.13758942C>T	GRCh38
NC_000005.9:g.13759051C>T , CM000667.1:g.13759051C>T	GRCh37
NC_000005.8:g.13812051C>T	NCBI36
NG_013081.1:g.190539G>A
NG_013081.2:g.190539G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10323G>A MANE Select	ENSP00000265104.4:p.Met3441Ile
ENST00000681290.1:c.10278G>A	ENSP00000505288.1:p.Met3426Ile
ENST00000265104.4:c.10323G>A	ENSP00000265104.4:p.Met3441Ile
NM_001369.2:c.10323G>A	NP_001360.1:p.Met3441Ile
XM_005248262.2:c.10278G>A	XP_005248319.1:p.Met3426Ile
XM_005248262.3:c.10431G>A	XP_005248319.2:p.Met3477Ile
XM_017009177.1:c.10431G>A	XP_016864666.1:p.Met3477Ile
XM_017009178.1:c.9336G>A	XP_016864667.1:p.Met3112Ile
XM_017009179.2:c.9336G>A	XP_016864668.1:p.Met3112Ile
XM_017009180.1:c.10431G>A	XP_016864669.1:p.Met3477Ile
XM_017009181.1:c.10431G>A	XP_016864670.1:p.Met3477Ile
XM_017009182.1:c.10431G>A	XP_016864671.1:p.Met3477Ile
XM_017009185.1:c.5520G>A	XP_016864674.1:p.Met1840Ile
XM_017009186.1:c.5073G>A	XP_016864675.1:p.Met1691Ile
XM_017009188.1:c.4410G>A	XP_016864677.1:p.Met1470Ile
XM_024454388.1:c.9336G>A	XP_024310156.1:p.Met3112Ile
XM_024454389.1:c.8925G>A	XP_024310157.1:p.Met2975Ile
NM_001369.3:c.10323G>A MANE Select	NP_001360.1:p.Met3441Ile