Canonical Allele Identifier: CA348633

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 219653
• ClinVar RCV Id: RCV000204405 ; RCV000478631 ; RCV001095124
• dbSNP Id: rs142036266
• ExAC: 5:13692190 G / A
• gnomAD v2: 5-13692190-G-A
• gnomAD v3: 5-13692081-G-A
• gnomAD v4: 5-13692081-G-A
• MyVariant Identifiers: chr5:g.13692190G>A (hg19) ; chr5:g.13692081G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692081G>A , CM000667.2:g.13692081G>A	GRCh38
NC_000005.9:g.13692190G>A , CM000667.1:g.13692190G>A	GRCh37
NC_000005.8:g.13745190G>A	NCBI36
NG_013081.1:g.257400C>T
NG_013081.2:g.257400C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1111C>T
ENST00000265104.5:c.13778C>T MANE Select	ENSP00000265104.4:p.Thr4593Met
ENST00000681290.1:c.13733C>T	ENSP00000505288.1:p.Thr4578Met
ENST00000265104.4:c.13778C>T	ENSP00000265104.4:p.Thr4593Met
NM_001369.2:c.13778C>T	NP_001360.1:p.Thr4593Met
XM_005248262.2:c.13733C>T	XP_005248319.1:p.Thr4578Met
XM_005248262.3:c.13886C>T	XP_005248319.2:p.Thr4629Met
XM_017009177.1:c.13466C>T	XP_016864666.1:p.Thr4489Met
XM_017009178.1:c.12791C>T	XP_016864667.1:p.Thr4264Met
XM_017009179.2:c.12791C>T	XP_016864668.1:p.Thr4264Met
XM_017009185.1:c.8975C>T	XP_016864674.1:p.Thr2992Met
XM_017009186.1:c.8528C>T	XP_016864675.1:p.Thr2843Met
XM_017009188.1:c.7865C>T	XP_016864677.1:p.Thr2622Met
XM_024454388.1:c.12791C>T	XP_024310156.1:p.Thr4264Met
XM_024454389.1:c.12380C>T	XP_024310157.1:p.Thr4127Met
NM_001369.3:c.13778C>T MANE Select	NP_001360.1:p.Thr4593Met