Canonical Allele Identifier: CA113930854

Gene: DNAH5

Linked Data

• dbSNP Id: rs923842695
• MyVariant Identifiers: chr5:g.13769167G>T (hg19) ; chr5:g.13769058G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13769058G>T , CM000667.2:g.13769058G>T	GRCh38
NC_000005.9:g.13769167G>T , CM000667.1:g.13769167G>T	GRCh37
NC_000005.8:g.13822167G>T	NCBI36
NG_013081.1:g.180423C>A
NG_013081.2:g.180423C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.9799C>A MANE Select	ENSP00000265104.4:p.Gln3267Lys
ENST00000681290.1:c.9754C>A	ENSP00000505288.1:p.Gln3252Lys
ENST00000265104.4:c.9799C>A	ENSP00000265104.4:p.Gln3267Lys
ENST00000504001.3:n.511C>A
NM_001369.2:c.9799C>A	NP_001360.1:p.Gln3267Lys
XM_005248262.2:c.9754C>A	XP_005248319.1:p.Gln3252Lys
XM_005248262.3:c.9907C>A	XP_005248319.2:p.Gln3303Lys
XM_017009177.1:c.9907C>A	XP_016864666.1:p.Gln3303Lys
XM_017009178.1:c.8812C>A	XP_016864667.1:p.Gln2938Lys
XM_017009179.2:c.8812C>A	XP_016864668.1:p.Gln2938Lys
XM_017009180.1:c.9907C>A	XP_016864669.1:p.Gln3303Lys
XM_017009181.1:c.9907C>A	XP_016864670.1:p.Gln3303Lys
XM_017009182.1:c.9907C>A	XP_016864671.1:p.Gln3303Lys
XM_017009185.1:c.4996C>A	XP_016864674.1:p.Gln1666Lys
XM_017009186.1:c.4549C>A	XP_016864675.1:p.Gln1517Lys
XM_017009188.1:c.3886C>A	XP_016864677.1:p.Gln1296Lys
XM_024454388.1:c.8812C>A	XP_024310156.1:p.Gln2938Lys
XM_024454389.1:c.8401C>A	XP_024310157.1:p.Gln2801Lys
NM_001369.3:c.9799C>A MANE Select	NP_001360.1:p.Gln3267Lys