Canonical Allele Identifier: CA359208431

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13717509-C-T
• MyVariant Identifiers: chr5:g.13717618C>T (hg19) ; chr5:g.13717509C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13717509C>T , CM000667.2:g.13717509C>T	GRCh38
NC_000005.9:g.13717618C>T , CM000667.1:g.13717618C>T	GRCh37
NC_000005.8:g.13770618C>T	NCBI36
NG_013081.1:g.231972G>A
NG_013081.2:g.231972G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.12511G>A MANE Select	ENSP00000265104.4:p.Asp4171Asn
ENST00000681290.1:c.12466G>A	ENSP00000505288.1:p.Asp4156Asn
ENST00000265104.4:c.12511G>A	ENSP00000265104.4:p.Asp4171Asn
NM_001369.2:c.12511G>A	NP_001360.1:p.Asp4171Asn
XM_005248262.2:c.12466G>A	XP_005248319.1:p.Asp4156Asn
XM_005248262.3:c.12619G>A	XP_005248319.2:p.Asp4207Asn
XM_017009177.1:c.12619G>A	XP_016864666.1:p.Asp4207Asn
XM_017009178.1:c.11524G>A	XP_016864667.1:p.Asp3842Asn
XM_017009179.2:c.11524G>A	XP_016864668.1:p.Asp3842Asn
XM_017009180.1:c.12619G>A	XP_016864669.1:p.Asp4207Asn
XM_017009185.1:c.7708G>A	XP_016864674.1:p.Asp2570Asn
XM_017009186.1:c.7261G>A	XP_016864675.1:p.Asp2421Asn
XM_017009188.1:c.6598G>A	XP_016864677.1:p.Asp2200Asn
XM_024454388.1:c.11524G>A	XP_024310156.1:p.Asp3842Asn
XM_024454389.1:c.11113G>A	XP_024310157.1:p.Asp3705Asn
NM_001369.3:c.12511G>A MANE Select	NP_001360.1:p.Asp4171Asn