Canonical Allele Identifier: CA359202063

Gene: DNAH5

Linked Data

• dbSNP Id: rs1752922339
• gnomAD v3: 5-13769074-C-G
• gnomAD v4: 5-13769074-C-G
• MyVariant Identifiers: chr5:g.13769183C>G (hg19) ; chr5:g.13769074C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13769074C>G , CM000667.2:g.13769074C>G	GRCh38
NC_000005.9:g.13769183C>G , CM000667.1:g.13769183C>G	GRCh37
NC_000005.8:g.13822183C>G	NCBI36
NG_013081.1:g.180407G>C
NG_013081.2:g.180407G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9783G>C MANE Select	ENSP00000265104.4:p.Lys3261Asn
ENST00000681290.1:c.9738G>C	ENSP00000505288.1:p.Lys3246Asn
ENST00000265104.4:c.9783G>C	ENSP00000265104.4:p.Lys3261Asn
ENST00000504001.3:n.495G>C
NM_001369.2:c.9783G>C	NP_001360.1:p.Lys3261Asn
XM_005248262.2:c.9738G>C	XP_005248319.1:p.Lys3246Asn
XM_005248262.3:c.9891G>C	XP_005248319.2:p.Lys3297Asn
XM_017009177.1:c.9891G>C	XP_016864666.1:p.Lys3297Asn
XM_017009178.1:c.8796G>C	XP_016864667.1:p.Lys2932Asn
XM_017009179.2:c.8796G>C	XP_016864668.1:p.Lys2932Asn
XM_017009180.1:c.9891G>C	XP_016864669.1:p.Lys3297Asn
XM_017009181.1:c.9891G>C	XP_016864670.1:p.Lys3297Asn
XM_017009182.1:c.9891G>C	XP_016864671.1:p.Lys3297Asn
XM_017009185.1:c.4980G>C	XP_016864674.1:p.Lys1660Asn
XM_017009186.1:c.4533G>C	XP_016864675.1:p.Lys1511Asn
XM_017009188.1:c.3870G>C	XP_016864677.1:p.Lys1290Asn
XM_024454388.1:c.8796G>C	XP_024310156.1:p.Lys2932Asn
XM_024454389.1:c.8385G>C	XP_024310157.1:p.Lys2795Asn
NM_001369.3:c.9783G>C MANE Select	NP_001360.1:p.Lys3261Asn