Canonical Allele Identifier: CA359188676

Gene: DNAH5

Linked Data

• dbSNP Id: rs760482011
• gnomAD v3: 5-13692079-C-T
• gnomAD v4: 5-13692079-C-T
• COSMIC: COSM3608774
• MyVariant Identifiers: chr5:g.13692188C>T (hg19) ; chr5:g.13692079C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692079C>T , CM000667.2:g.13692079C>T	GRCh38
NC_000005.9:g.13692188C>T , CM000667.1:g.13692188C>T	GRCh37
NC_000005.8:g.13745188C>T	NCBI36
NG_013081.1:g.257402G>A
NG_013081.2:g.257402G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1113G>A
ENST00000265104.5:c.13780G>A MANE Select	ENSP00000265104.4:p.Asp4594Asn
ENST00000681290.1:c.13735G>A	ENSP00000505288.1:p.Asp4579Asn
ENST00000265104.4:c.13780G>A	ENSP00000265104.4:p.Asp4594Asn
NM_001369.2:c.13780G>A	NP_001360.1:p.Asp4594Asn
XM_005248262.2:c.13735G>A	XP_005248319.1:p.Asp4579Asn
XM_005248262.3:c.13888G>A	XP_005248319.2:p.Asp4630Asn
XM_017009177.1:c.13468G>A	XP_016864666.1:p.Asp4490Asn
XM_017009178.1:c.12793G>A	XP_016864667.1:p.Asp4265Asn
XM_017009179.2:c.12793G>A	XP_016864668.1:p.Asp4265Asn
XM_017009185.1:c.8977G>A	XP_016864674.1:p.Asp2993Asn
XM_017009186.1:c.8530G>A	XP_016864675.1:p.Asp2844Asn
XM_017009188.1:c.7867G>A	XP_016864677.1:p.Asp2623Asn
XM_024454388.1:c.12793G>A	XP_024310156.1:p.Asp4265Asn
XM_024454389.1:c.12382G>A	XP_024310157.1:p.Asp4128Asn
NM_001369.3:c.13780G>A MANE Select	NP_001360.1:p.Asp4594Asn