Canonical Allele Identifier: CA3202157

Gene: DNAH5

Linked Data

• dbSNP Id: rs774184336
• ExAC: 5:13753534 G / T
• gnomAD v3: 5-13753425-G-T
• gnomAD v4: 5-13753425-G-T
• MyVariant Identifiers: chr5:g.13753534G>T (hg19) ; chr5:g.13753425G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13753425G>T , CM000667.2:g.13753425G>T	GRCh38
NC_000005.9:g.13753534G>T , CM000667.1:g.13753534G>T	GRCh37
NC_000005.8:g.13806534G>T	NCBI36
NG_013081.1:g.196056C>A
NG_013081.2:g.196056C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10680C>A MANE Select	ENSP00000265104.4:p.Asn3560Lys
ENST00000681290.1:c.10635C>A	ENSP00000505288.1:p.Asn3545Lys
ENST00000265104.4:c.10680C>A	ENSP00000265104.4:p.Asn3560Lys
NM_001369.2:c.10680C>A	NP_001360.1:p.Asn3560Lys
XM_005248262.2:c.10635C>A	XP_005248319.1:p.Asn3545Lys
XM_005248262.3:c.10788C>A	XP_005248319.2:p.Asn3596Lys
XM_017009177.1:c.10788C>A	XP_016864666.1:p.Asn3596Lys
XM_017009178.1:c.9693C>A	XP_016864667.1:p.Asn3231Lys
XM_017009179.2:c.9693C>A	XP_016864668.1:p.Asn3231Lys
XM_017009180.1:c.10788C>A	XP_016864669.1:p.Asn3596Lys
XM_017009181.1:c.10788C>A	XP_016864670.1:p.Asn3596Lys
XM_017009182.1:c.10788C>A	XP_016864671.1:p.Asn3596Lys
XM_017009185.1:c.5877C>A	XP_016864674.1:p.Asn1959Lys
XM_017009186.1:c.5430C>A	XP_016864675.1:p.Asn1810Lys
XM_017009188.1:c.4767C>A	XP_016864677.1:p.Asn1589Lys
XM_024454388.1:c.9693C>A	XP_024310156.1:p.Asn3231Lys
XM_024454389.1:c.9282C>A	XP_024310157.1:p.Asn3094Lys
NM_001369.3:c.10680C>A MANE Select	NP_001360.1:p.Asn3560Lys