Canonical Allele Identifier: CA359207901

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 2047503
• ClinVar RCV Id: RCV002904352
• dbSNP Id: rs1251640049
• gnomAD v2: 5-13776565-T-C
• gnomAD v3: 5-13776456-T-C
• gnomAD v4: 5-13776456-T-C
• MyVariant Identifiers: chr5:g.13776565T>C (hg19) ; chr5:g.13776456T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13776456T>C , CM000667.2:g.13776456T>C	GRCh38
NC_000005.9:g.13776565T>C , CM000667.1:g.13776565T>C	GRCh37
NC_000005.8:g.13829565T>C	NCBI36
NG_013081.1:g.173025A>G
NG_013081.2:g.173025A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.9356A>G MANE Select	ENSP00000265104.4:p.Lys3119Arg
ENST00000681290.1:c.9311A>G	ENSP00000505288.1:p.Lys3104Arg
ENST00000265104.4:c.9356A>G	ENSP00000265104.4:p.Lys3119Arg
NM_001369.2:c.9356A>G	NP_001360.1:p.Lys3119Arg
XM_005248262.2:c.9311A>G	XP_005248319.1:p.Lys3104Arg
XM_005248262.3:c.9464A>G	XP_005248319.2:p.Lys3155Arg
XM_017009177.1:c.9464A>G	XP_016864666.1:p.Lys3155Arg
XM_017009178.1:c.8369A>G	XP_016864667.1:p.Lys2790Arg
XM_017009179.2:c.8369A>G	XP_016864668.1:p.Lys2790Arg
XM_017009180.1:c.9464A>G	XP_016864669.1:p.Lys3155Arg
XM_017009181.1:c.9464A>G	XP_016864670.1:p.Lys3155Arg
XM_017009182.1:c.9464A>G	XP_016864671.1:p.Lys3155Arg
XM_017009183.1:c.9464A>G	XP_016864672.1:p.Lys3155Arg
XM_017009185.1:c.4553A>G	XP_016864674.1:p.Lys1518Arg
XM_017009186.1:c.4106A>G	XP_016864675.1:p.Lys1369Arg
XM_017009188.1:c.3443A>G	XP_016864677.1:p.Lys1148Arg
XM_024454388.1:c.8369A>G	XP_024310156.1:p.Lys2790Arg
XM_024454389.1:c.7958A>G	XP_024310157.1:p.Lys2653Arg
NM_001369.3:c.9356A>G MANE Select	NP_001360.1:p.Lys3119Arg