Canonical Allele Identifier: CA359189866

Gene: DNAH5

Linked Data

• dbSNP Id: rs1483392439
• gnomAD v2: 5-13752286-T-C
• gnomAD v4: 5-13752177-T-C
• MyVariant Identifiers: chr5:g.13752286T>C (hg19) ; chr5:g.13752177T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13752177T>C , CM000667.2:g.13752177T>C	GRCh38
NC_000005.9:g.13752286T>C , CM000667.1:g.13752286T>C	GRCh37
NC_000005.8:g.13805286T>C	NCBI36
NG_013081.1:g.197304A>G
NG_013081.2:g.197304A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10985A>G MANE Select	ENSP00000265104.4:p.Asn3662Ser
ENST00000681290.1:c.10940A>G	ENSP00000505288.1:p.Asn3647Ser
ENST00000265104.4:c.10985A>G	ENSP00000265104.4:p.Asn3662Ser
NM_001369.2:c.10985A>G	NP_001360.1:p.Asn3662Ser
XM_005248262.2:c.10940A>G	XP_005248319.1:p.Asn3647Ser
XM_005248262.3:c.11093A>G	XP_005248319.2:p.Asn3698Ser
XM_017009177.1:c.11093A>G	XP_016864666.1:p.Asn3698Ser
XM_017009178.1:c.9998A>G	XP_016864667.1:p.Asn3333Ser
XM_017009179.2:c.9998A>G	XP_016864668.1:p.Asn3333Ser
XM_017009180.1:c.11093A>G	XP_016864669.1:p.Asn3698Ser
XM_017009181.1:c.11093A>G	XP_016864670.1:p.Asn3698Ser
XM_017009182.1:c.11093A>G	XP_016864671.1:p.Asn3698Ser
XM_017009185.1:c.6182A>G	XP_016864674.1:p.Asn2061Ser
XM_017009186.1:c.5735A>G	XP_016864675.1:p.Asn1912Ser
XM_017009188.1:c.5072A>G	XP_016864677.1:p.Asn1691Ser
XM_024454388.1:c.9998A>G	XP_024310156.1:p.Asn3333Ser
XM_024454389.1:c.9587A>G	XP_024310157.1:p.Asn3196Ser
NM_001369.3:c.10985A>G MANE Select	NP_001360.1:p.Asn3662Ser