Canonical Allele Identifier: CA3201584

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 976559
• ClinVar RCV Id: RCV001492249
• dbSNP Id: rs755597752
• ExAC: 5:13717514 C / T
• gnomAD v2: 5-13717514-C-T
• gnomAD v3: 5-13717405-C-T
• gnomAD v4: 5-13717405-C-T
• MyVariant Identifiers: chr5:g.13717514C>T (hg19) ; chr5:g.13717405C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13717405C>T , CM000667.2:g.13717405C>T	GRCh38
NC_000005.9:g.13717514C>T , CM000667.1:g.13717514C>T	GRCh37
NC_000005.8:g.13770514C>T	NCBI36
NG_013081.1:g.232076G>A
NG_013081.2:g.232076G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.12615G>A MANE Select	ENSP00000265104.4:p.Gly4205=
ENST00000681290.1:c.12570G>A	ENSP00000505288.1:p.Gly4190=
ENST00000265104.4:c.12615G>A	ENSP00000265104.4:p.Gly4205=
NM_001369.2:c.12615G>A	NP_001360.1:p.Gly4205=
XM_005248262.2:c.12570G>A	XP_005248319.1:p.Gly4190=
XM_005248262.3:c.12723G>A	XP_005248319.2:p.Gly4241=
XM_017009177.1:c.12723G>A	XP_016864666.1:p.Gly4241=
XM_017009178.1:c.11628G>A	XP_016864667.1:p.Gly3876=
XM_017009179.2:c.11628G>A	XP_016864668.1:p.Gly3876=
XM_017009180.1:c.12723G>A	XP_016864669.1:p.Gly4241=
XM_017009185.1:c.7812G>A	XP_016864674.1:p.Gly2604=
XM_017009186.1:c.7365G>A	XP_016864675.1:p.Gly2455=
XM_017009188.1:c.6702G>A	XP_016864677.1:p.Gly2234=
XM_024454388.1:c.11628G>A	XP_024310156.1:p.Gly3876=
XM_024454389.1:c.11217G>A	XP_024310157.1:p.Gly3739=
NM_001369.3:c.12615G>A MANE Select	NP_001360.1:p.Gly4205=