Canonical Allele Identifier: CA182923

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 178743
• ClinVar RCV Id: RCV000155503 ; RCV000265989 ; RCV001094957 ; RCV001706044
• dbSNP Id: rs30168
• ExAC: 5:13719089 G / A
• gnomAD v2: 5-13719089-G-A
• gnomAD v3: 5-13718980-G-A
• gnomAD v4: 5-13718980-G-A
• MyVariant Identifiers: chr5:g.13719089G>A (hg19) ; chr5:g.13718980G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13718980G>A , CM000667.2:g.13718980G>A	GRCh38
NC_000005.9:g.13719089G>A , CM000667.1:g.13719089G>A	GRCh37
NC_000005.8:g.13772089G>A	NCBI36
NG_013081.1:g.230501C>T
NG_013081.2:g.230501C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.12401C>T MANE Select	ENSP00000265104.4:p.Ala4134Val
ENST00000681290.1:c.12356C>T	ENSP00000505288.1:p.Ala4119Val
ENST00000265104.4:c.12401C>T	ENSP00000265104.4:p.Ala4134Val
NM_001369.2:c.12401C>T	NP_001360.1:p.Ala4134Val
XM_005248262.2:c.12356C>T	XP_005248319.1:p.Ala4119Val
XM_005248262.3:c.12509C>T	XP_005248319.2:p.Ala4170Val
XM_017009177.1:c.12509C>T	XP_016864666.1:p.Ala4170Val
XM_017009178.1:c.11414C>T	XP_016864667.1:p.Ala3805Val
XM_017009179.2:c.11414C>T	XP_016864668.1:p.Ala3805Val
XM_017009180.1:c.12509C>T	XP_016864669.1:p.Ala4170Val
XM_017009185.1:c.7598C>T	XP_016864674.1:p.Ala2533Val
XM_017009186.1:c.7151C>T	XP_016864675.1:p.Ala2384Val
XM_017009188.1:c.6488C>T	XP_016864677.1:p.Ala2163Val
XM_024454388.1:c.11414C>T	XP_024310156.1:p.Ala3805Val
XM_024454389.1:c.11003C>T	XP_024310157.1:p.Ala3668Val
NM_001369.3:c.12401C>T MANE Select	NP_001360.1:p.Ala4134Val