Canonical Allele Identifier: CA443248725

Gene: DNAH5

Linked Data

• dbSNP Id: rs1387347831
• gnomAD v3: 5-13752257-G-A
• gnomAD v4: 5-13752257-G-A
• MyVariant Identifiers: chr5:g.13752366G>A (hg19) ; chr5:g.13752257G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13752257G>A , CM000667.2:g.13752257G>A	GRCh38
NC_000005.9:g.13752366G>A , CM000667.1:g.13752366G>A	GRCh37
NC_000005.8:g.13805366G>A	NCBI36
NG_013081.1:g.197224C>T
NG_013081.2:g.197224C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.10905C>T MANE Select	ENSP00000265104.4:p.Asn3635=
ENST00000681290.1:c.10860C>T	ENSP00000505288.1:p.Asn3620=
ENST00000265104.4:c.10905C>T	ENSP00000265104.4:p.Asn3635=
NM_001369.2:c.10905C>T	NP_001360.1:p.Asn3635=
XM_005248262.2:c.10860C>T	XP_005248319.1:p.Asn3620=
XM_005248262.3:c.11013C>T	XP_005248319.2:p.Asn3671=
XM_017009177.1:c.11013C>T	XP_016864666.1:p.Asn3671=
XM_017009178.1:c.9918C>T	XP_016864667.1:p.Asn3306=
XM_017009179.2:c.9918C>T	XP_016864668.1:p.Asn3306=
XM_017009180.1:c.11013C>T	XP_016864669.1:p.Asn3671=
XM_017009181.1:c.11013C>T	XP_016864670.1:p.Asn3671=
XM_017009182.1:c.11013C>T	XP_016864671.1:p.Asn3671=
XM_017009185.1:c.6102C>T	XP_016864674.1:p.Asn2034=
XM_017009186.1:c.5655C>T	XP_016864675.1:p.Asn1885=
XM_017009188.1:c.4992C>T	XP_016864677.1:p.Asn1664=
XM_024454388.1:c.9918C>T	XP_024310156.1:p.Asn3306=
XM_024454389.1:c.9507C>T	XP_024310157.1:p.Asn3169=
NM_001369.3:c.10905C>T MANE Select	NP_001360.1:p.Asn3635=