Canonical Allele Identifier: CA3201421

Gene: DNAH5

Linked Data

• dbSNP Id: rs745462884
• ExAC: 5:13708370 C / T
• gnomAD v2: 5-13708370-C-T
• gnomAD v4: 5-13708261-C-T
• MyVariant Identifiers: chr5:g.13708370C>T (hg19) ; chr5:g.13708261C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13708261C>T , CM000667.2:g.13708261C>T	GRCh38
NC_000005.9:g.13708370C>T , CM000667.1:g.13708370C>T	GRCh37
NC_000005.8:g.13761370C>T	NCBI36
NG_013081.1:g.241220G>A
NG_013081.2:g.241220G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.533G>A
ENST00000265104.5:c.13200G>A MANE Select	ENSP00000265104.4:p.Met4400Ile
ENST00000681290.1:c.13155G>A	ENSP00000505288.1:p.Met4385Ile
ENST00000265104.4:c.13200G>A	ENSP00000265104.4:p.Met4400Ile
NM_001369.2:c.13200G>A	NP_001360.1:p.Met4400Ile
XM_005248262.2:c.13155G>A	XP_005248319.1:p.Met4385Ile
XM_005248262.3:c.13308G>A	XP_005248319.2:p.Met4436Ile
XM_017009177.1:c.12888G>A	XP_016864666.1:p.Met4296Ile
XM_017009178.1:c.12213G>A	XP_016864667.1:p.Met4071Ile
XM_017009179.2:c.12213G>A	XP_016864668.1:p.Met4071Ile
XM_017009185.1:c.8397G>A	XP_016864674.1:p.Met2799Ile
XM_017009186.1:c.7950G>A	XP_016864675.1:p.Met2650Ile
XM_017009188.1:c.7287G>A	XP_016864677.1:p.Met2429Ile
XM_024454388.1:c.12213G>A	XP_024310156.1:p.Met4071Ile
XM_024454389.1:c.11802G>A	XP_024310157.1:p.Met3934Ile
NM_001369.3:c.13200G>A MANE Select	NP_001360.1:p.Met4400Ile