Canonical Allele Identifier: CA3201605

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 907179
• ClinVar RCV Id: RCV001156826 ; RCV001239528
• dbSNP Id: rs547445590
• ExAC: 5:13717616 G / T
• gnomAD v2: 5-13717616-G-T
• gnomAD v3: 5-13717507-G-T
• gnomAD v4: 5-13717507-G-T
• MyVariant Identifiers: chr5:g.13717616G>T (hg19) ; chr5:g.13717507G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13717507G>T , CM000667.2:g.13717507G>T	GRCh38
NC_000005.9:g.13717616G>T , CM000667.1:g.13717616G>T	GRCh37
NC_000005.8:g.13770616G>T	NCBI36
NG_013081.1:g.231974C>A
NG_013081.2:g.231974C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.12513C>A MANE Select	ENSP00000265104.4:p.Asp4171Glu
ENST00000681290.1:c.12468C>A	ENSP00000505288.1:p.Asp4156Glu
ENST00000265104.4:c.12513C>A	ENSP00000265104.4:p.Asp4171Glu
NM_001369.2:c.12513C>A	NP_001360.1:p.Asp4171Glu
XM_005248262.2:c.12468C>A	XP_005248319.1:p.Asp4156Glu
XM_005248262.3:c.12621C>A	XP_005248319.2:p.Asp4207Glu
XM_017009177.1:c.12621C>A	XP_016864666.1:p.Asp4207Glu
XM_017009178.1:c.11526C>A	XP_016864667.1:p.Asp3842Glu
XM_017009179.2:c.11526C>A	XP_016864668.1:p.Asp3842Glu
XM_017009180.1:c.12621C>A	XP_016864669.1:p.Asp4207Glu
XM_017009185.1:c.7710C>A	XP_016864674.1:p.Asp2570Glu
XM_017009186.1:c.7263C>A	XP_016864675.1:p.Asp2421Glu
XM_017009188.1:c.6600C>A	XP_016864677.1:p.Asp2200Glu
XM_024454388.1:c.11526C>A	XP_024310156.1:p.Asp3842Glu
XM_024454389.1:c.11115C>A	XP_024310157.1:p.Asp3705Glu
NM_001369.3:c.12513C>A MANE Select	NP_001360.1:p.Asp4171Glu