Canonical Allele Identifier: CA359197042

Gene: DNAH5

Linked Data

• dbSNP Id: rs1347606858
• gnomAD v2: 5-13708330-G-C
• gnomAD v4: 5-13708221-G-C
• MyVariant Identifiers: chr5:g.13708330G>C (hg19) ; chr5:g.13708221G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13708221G>C , CM000667.2:g.13708221G>C	GRCh38
NC_000005.9:g.13708330G>C , CM000667.1:g.13708330G>C	GRCh37
NC_000005.8:g.13761330G>C	NCBI36
NG_013081.1:g.241260C>G
NG_013081.2:g.241260C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.573C>G
ENST00000265104.5:c.13240C>G MANE Select	ENSP00000265104.4:p.Leu4414Val
ENST00000681290.1:c.13195C>G	ENSP00000505288.1:p.Leu4399Val
ENST00000265104.4:c.13240C>G	ENSP00000265104.4:p.Leu4414Val
NM_001369.2:c.13240C>G	NP_001360.1:p.Leu4414Val
XM_005248262.2:c.13195C>G	XP_005248319.1:p.Leu4399Val
XM_005248262.3:c.13348C>G	XP_005248319.2:p.Leu4450Val
XM_017009177.1:c.12928C>G	XP_016864666.1:p.Leu4310Val
XM_017009178.1:c.12253C>G	XP_016864667.1:p.Leu4085Val
XM_017009179.2:c.12253C>G	XP_016864668.1:p.Leu4085Val
XM_017009185.1:c.8437C>G	XP_016864674.1:p.Leu2813Val
XM_017009186.1:c.7990C>G	XP_016864675.1:p.Leu2664Val
XM_017009188.1:c.7327C>G	XP_016864677.1:p.Leu2443Val
XM_024454388.1:c.12253C>G	XP_024310156.1:p.Leu4085Val
XM_024454389.1:c.11842C>G	XP_024310157.1:p.Leu3948Val
NM_001369.3:c.13240C>G MANE Select	NP_001360.1:p.Leu4414Val