Canonical Allele Identifier: CA3204595

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 351201
• ClinVar RCV Id: RCV000311206 ; RCV000489824 ; RCV001095051
• dbSNP Id: rs369244905
• ExAC: 5:13894754 C / T
• gnomAD v2: 5-13894754-C-T
• gnomAD v3: 5-13894645-C-T
• gnomAD v4: 5-13894645-C-T
• MyVariant Identifiers: chr5:g.13894754C>T (hg19) ; chr5:g.13894645C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13894645C>T , CM000667.2:g.13894645C>T	GRCh38
NC_000005.9:g.13894754C>T , CM000667.1:g.13894754C>T	GRCh37
NC_000005.8:g.13947754C>T	NCBI36
NG_013081.1:g.54836G>A
NG_013081.2:g.54836G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.2431+5G>A MANE Select	ENSP00000265104.4:n.2431+5G>A
ENST00000681290.1:c.2386+5G>A	ENSP00000505288.1:n.2386+5G>A
ENST00000265104.4:c.2431+5G>A	ENSP00000265104.4:n.2431+5G>A
NM_001369.2:c.2431+5G>A	NP_001360.1:n.2431+5G>A
XM_005248262.2:c.2386+5G>A	XP_005248319.1:n.2386+5G>A
XM_011513990.1:c.2431+5G>A	XP_011512292.1:n.2431+5G>A
XR_925598.1:n.2638+5G>A
XM_005248262.3:c.2539+5G>A	XP_005248319.2:n.2539+5G>A
XM_017009177.1:c.2539+5G>A	XP_016864666.1:n.2539+5G>A
XM_017009178.1:c.1444+5G>A	XP_016864667.1:n.1444+5G>A
XM_017009179.2:c.1444+5G>A	XP_016864668.1:n.1444+5G>A
XM_017009180.1:c.2539+5G>A	XP_016864669.1:n.2539+5G>A
XM_017009181.1:c.2539+5G>A	XP_016864670.1:n.2539+5G>A
XM_017009182.1:c.2539+5G>A	XP_016864671.1:n.2539+5G>A
XM_017009183.1:c.2539+5G>A	XP_016864672.1:n.2539+5G>A
XM_017009184.1:c.2539+5G>A	XP_016864673.1:n.2539+5G>A
XM_017009187.1:c.2539+5G>A	XP_016864676.1:n.2539+5G>A
XM_024454388.1:c.1444+5G>A	XP_024310156.1:n.1444+5G>A
XM_024454389.1:c.1033+5G>A	XP_024310157.1:n.1033+5G>A
XR_001742034.1:n.2556+5G>A
XR_001742035.1:n.2556+5G>A
NM_001369.3:c.2431+5G>A MANE Select	NP_001360.1:n.2431+5G>A