Canonical Allele Identifier: CA3201235

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 2781399
• ClinVar RCV Id: RCV003648114
• dbSNP Id: rs191662365
• ExAC: 5:13692161 G / A
• gnomAD v2: 5-13692161-G-A
• gnomAD v3: 5-13692052-G-A
• gnomAD v4: 5-13692052-G-A
• COSMIC: COSM3918670
• MyVariant Identifiers: chr5:g.13692161G>A (hg19) ; chr5:g.13692052G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692052G>A , CM000667.2:g.13692052G>A	GRCh38
NC_000005.9:g.13692161G>A , CM000667.1:g.13692161G>A	GRCh37
NC_000005.8:g.13745161G>A	NCBI36
NG_013081.1:g.257429C>T
NG_013081.2:g.257429C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000683611.1:n.1140C>T
ENST00000265104.5:c.13807C>T MANE Select	ENSP00000265104.4:p.Leu4603Phe
ENST00000681290.1:c.13762C>T	ENSP00000505288.1:p.Leu4588Phe
ENST00000265104.4:c.13807C>T	ENSP00000265104.4:p.Leu4603Phe
NM_001369.2:c.13807C>T	NP_001360.1:p.Leu4603Phe
XM_005248262.2:c.13762C>T	XP_005248319.1:p.Leu4588Phe
XM_005248262.3:c.13915C>T	XP_005248319.2:p.Leu4639Phe
XM_017009177.1:c.13495C>T	XP_016864666.1:p.Leu4499Phe
XM_017009178.1:c.12820C>T	XP_016864667.1:p.Leu4274Phe
XM_017009179.2:c.12820C>T	XP_016864668.1:p.Leu4274Phe
XM_017009185.1:c.9004C>T	XP_016864674.1:p.Leu3002Phe
XM_017009186.1:c.8557C>T	XP_016864675.1:p.Leu2853Phe
XM_017009188.1:c.7894C>T	XP_016864677.1:p.Leu2632Phe
XM_024454388.1:c.12820C>T	XP_024310156.1:p.Leu4274Phe
XM_024454389.1:c.12409C>T	XP_024310157.1:p.Leu4137Phe
NM_001369.3:c.13807C>T MANE Select	NP_001360.1:p.Leu4603Phe