Canonical Allele Identifier: CA359197859

Gene: DNAH5

Linked Data

• dbSNP Id: rs1743053977
• gnomAD v4: 5-13708284-G-A
• MyVariant Identifiers: chr5:g.13708393G>A (hg19) ; chr5:g.13708284G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13708284G>A , CM000667.2:g.13708284G>A	GRCh38
NC_000005.9:g.13708393G>A , CM000667.1:g.13708393G>A	GRCh37
NC_000005.8:g.13761393G>A	NCBI36
NG_013081.1:g.241197C>T
NG_013081.2:g.241197C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.510C>T
ENST00000265104.5:c.13177C>T MANE Select	ENSP00000265104.4:p.Leu4393Phe
ENST00000681290.1:c.13132C>T	ENSP00000505288.1:p.Leu4378Phe
ENST00000265104.4:c.13177C>T	ENSP00000265104.4:p.Leu4393Phe
NM_001369.2:c.13177C>T	NP_001360.1:p.Leu4393Phe
XM_005248262.2:c.13132C>T	XP_005248319.1:p.Leu4378Phe
XM_005248262.3:c.13285C>T	XP_005248319.2:p.Leu4429Phe
XM_017009177.1:c.12865C>T	XP_016864666.1:p.Leu4289Phe
XM_017009178.1:c.12190C>T	XP_016864667.1:p.Leu4064Phe
XM_017009179.2:c.12190C>T	XP_016864668.1:p.Leu4064Phe
XM_017009185.1:c.8374C>T	XP_016864674.1:p.Leu2792Phe
XM_017009186.1:c.7927C>T	XP_016864675.1:p.Leu2643Phe
XM_017009188.1:c.7264C>T	XP_016864677.1:p.Leu2422Phe
XM_024454388.1:c.12190C>T	XP_024310156.1:p.Leu4064Phe
XM_024454389.1:c.11779C>T	XP_024310157.1:p.Leu3927Phe
NM_001369.3:c.13177C>T MANE Select	NP_001360.1:p.Leu4393Phe