Canonical Allele Identifier: CA359220971

Gene: DNAH5

Linked Data

• dbSNP Id: rs1182340295
• gnomAD v2: 5-13793654-G-A
• gnomAD v4: 5-13793545-G-A
• MyVariant Identifiers: chr5:g.13793654G>A (hg19) ; chr5:g.13793545G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13793545G>A , CM000667.2:g.13793545G>A	GRCh38
NC_000005.9:g.13793654G>A , CM000667.1:g.13793654G>A	GRCh37
NC_000005.8:g.13846654G>A	NCBI36
NG_013081.1:g.155936C>T
NG_013081.2:g.155936C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.8194C>T MANE Select	ENSP00000265104.4:p.Pro2732Ser
ENST00000681290.1:c.8149C>T	ENSP00000505288.1:p.Pro2717Ser
ENST00000265104.4:c.8194C>T	ENSP00000265104.4:p.Pro2732Ser
NM_001369.2:c.8194C>T	NP_001360.1:p.Pro2732Ser
XM_005248262.2:c.8149C>T	XP_005248319.1:p.Pro2717Ser
XM_011513990.1:c.8194C>T	XP_011512292.1:p.Pro2732Ser
XR_925598.1:n.8401C>T
XM_005248262.3:c.8302C>T	XP_005248319.2:p.Pro2768Ser
XM_017009177.1:c.8302C>T	XP_016864666.1:p.Pro2768Ser
XM_017009178.1:c.7207C>T	XP_016864667.1:p.Pro2403Ser
XM_017009179.2:c.7207C>T	XP_016864668.1:p.Pro2403Ser
XM_017009180.1:c.8302C>T	XP_016864669.1:p.Pro2768Ser
XM_017009181.1:c.8302C>T	XP_016864670.1:p.Pro2768Ser
XM_017009182.1:c.8302C>T	XP_016864671.1:p.Pro2768Ser
XM_017009183.1:c.8302C>T	XP_016864672.1:p.Pro2768Ser
XM_017009184.1:c.8302C>T	XP_016864673.1:p.Pro2768Ser
XM_017009185.1:c.3391C>T	XP_016864674.1:p.Pro1131Ser
XM_017009186.1:c.2944C>T	XP_016864675.1:p.Pro982Ser
XM_017009188.1:c.2281C>T	XP_016864677.1:p.Pro761Ser
XM_024454388.1:c.7207C>T	XP_024310156.1:p.Pro2403Ser
XM_024454389.1:c.6796C>T	XP_024310157.1:p.Pro2266Ser
XR_001742034.1:n.8319C>T
XR_001742035.1:n.8319C>T
NM_001369.3:c.8194C>T MANE Select	NP_001360.1:p.Pro2732Ser