Canonical Allele Identifier: CA113932891

Gene: DNAH5

Linked Data

• dbSNP Id: rs375817990
• gnomAD v4: 5-13770816-A-G
• MyVariant Identifiers: chr5:g.13770925A>G (hg19) ; chr5:g.13770816A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13770816A>G , CM000667.2:g.13770816A>G	GRCh38
NC_000005.9:g.13770925A>G , CM000667.1:g.13770925A>G	GRCh37
NC_000005.8:g.13823925A>G	NCBI36
NG_013081.1:g.178665T>C
NG_013081.2:g.178665T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9538T>C MANE Select	ENSP00000265104.4:p.Ser3180Pro
ENST00000681290.1:c.9493T>C	ENSP00000505288.1:p.Ser3165Pro
ENST00000265104.4:c.9538T>C	ENSP00000265104.4:p.Ser3180Pro
ENST00000504001.3:n.250T>C
NM_001369.2:c.9538T>C	NP_001360.1:p.Ser3180Pro
XM_005248262.2:c.9493T>C	XP_005248319.1:p.Ser3165Pro
XM_005248262.3:c.9646T>C	XP_005248319.2:p.Ser3216Pro
XM_017009177.1:c.9646T>C	XP_016864666.1:p.Ser3216Pro
XM_017009178.1:c.8551T>C	XP_016864667.1:p.Ser2851Pro
XM_017009179.2:c.8551T>C	XP_016864668.1:p.Ser2851Pro
XM_017009180.1:c.9646T>C	XP_016864669.1:p.Ser3216Pro
XM_017009181.1:c.9646T>C	XP_016864670.1:p.Ser3216Pro
XM_017009182.1:c.9646T>C	XP_016864671.1:p.Ser3216Pro
XM_017009183.1:c.9646T>C	XP_016864672.1:p.Ser3216Pro
XM_017009185.1:c.4735T>C	XP_016864674.1:p.Ser1579Pro
XM_017009186.1:c.4288T>C	XP_016864675.1:p.Ser1430Pro
XM_017009188.1:c.3625T>C	XP_016864677.1:p.Ser1209Pro
XM_024454388.1:c.8551T>C	XP_024310156.1:p.Ser2851Pro
XM_024454389.1:c.8140T>C	XP_024310157.1:p.Ser2714Pro
NM_001369.3:c.9538T>C MANE Select	NP_001360.1:p.Ser3180Pro