Canonical Allele Identifier: CA3201586

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 977594
• ClinVar RCV Id: RCV001255309 ; RCV001356023
• dbSNP Id: rs748903850
• ExAC: 5:13717525 C / T
• gnomAD v2: 5-13717525-C-T
• gnomAD v3: 5-13717416-C-T
• gnomAD v4: 5-13717416-C-T
• MyVariant Identifiers: chr5:g.13717525C>T (hg19) ; chr5:g.13717416C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13717416C>T , CM000667.2:g.13717416C>T	GRCh38
NC_000005.9:g.13717525C>T , CM000667.1:g.13717525C>T	GRCh37
NC_000005.8:g.13770525C>T	NCBI36
NG_013081.1:g.232065G>A
NG_013081.2:g.232065G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.12604G>A MANE Select	ENSP00000265104.4:p.Gly4202Ser
ENST00000681290.1:c.12559G>A	ENSP00000505288.1:p.Gly4187Ser
ENST00000265104.4:c.12604G>A	ENSP00000265104.4:p.Gly4202Ser
NM_001369.2:c.12604G>A	NP_001360.1:p.Gly4202Ser
XM_005248262.2:c.12559G>A	XP_005248319.1:p.Gly4187Ser
XM_005248262.3:c.12712G>A	XP_005248319.2:p.Gly4238Ser
XM_017009177.1:c.12712G>A	XP_016864666.1:p.Gly4238Ser
XM_017009178.1:c.11617G>A	XP_016864667.1:p.Gly3873Ser
XM_017009179.2:c.11617G>A	XP_016864668.1:p.Gly3873Ser
XM_017009180.1:c.12712G>A	XP_016864669.1:p.Gly4238Ser
XM_017009185.1:c.7801G>A	XP_016864674.1:p.Gly2601Ser
XM_017009186.1:c.7354G>A	XP_016864675.1:p.Gly2452Ser
XM_017009188.1:c.6691G>A	XP_016864677.1:p.Gly2231Ser
XM_024454388.1:c.11617G>A	XP_024310156.1:p.Gly3873Ser
XM_024454389.1:c.11206G>A	XP_024310157.1:p.Gly3736Ser
NM_001369.3:c.12604G>A MANE Select	NP_001360.1:p.Gly4202Ser