Canonical Allele Identifier: CA359188780

Gene: DNAH5

Linked Data

• dbSNP Id: rs1740775378
• gnomAD v3: 5-13692132-A-G
• gnomAD v4: 5-13692132-A-G
• MyVariant Identifiers: chr5:g.13692241A>G (hg19) ; chr5:g.13692132A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692132A>G , CM000667.2:g.13692132A>G	GRCh38
NC_000005.9:g.13692241A>G , CM000667.1:g.13692241A>G	GRCh37
NC_000005.8:g.13745241A>G	NCBI36
NG_013081.1:g.257349T>C
NG_013081.2:g.257349T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1060T>C
ENST00000265104.5:c.13727T>C MANE Select	ENSP00000265104.4:p.Leu4576Ser
ENST00000681290.1:c.13682T>C	ENSP00000505288.1:p.Leu4561Ser
ENST00000265104.4:c.13727T>C	ENSP00000265104.4:p.Leu4576Ser
NM_001369.2:c.13727T>C	NP_001360.1:p.Leu4576Ser
XM_005248262.2:c.13682T>C	XP_005248319.1:p.Leu4561Ser
XM_005248262.3:c.13835T>C	XP_005248319.2:p.Leu4612Ser
XM_017009177.1:c.13415T>C	XP_016864666.1:p.Leu4472Ser
XM_017009178.1:c.12740T>C	XP_016864667.1:p.Leu4247Ser
XM_017009179.2:c.12740T>C	XP_016864668.1:p.Leu4247Ser
XM_017009185.1:c.8924T>C	XP_016864674.1:p.Leu2975Ser
XM_017009186.1:c.8477T>C	XP_016864675.1:p.Leu2826Ser
XM_017009188.1:c.7814T>C	XP_016864677.1:p.Leu2605Ser
XM_024454388.1:c.12740T>C	XP_024310156.1:p.Leu4247Ser
XM_024454389.1:c.12329T>C	XP_024310157.1:p.Leu4110Ser
NM_001369.3:c.13727T>C MANE Select	NP_001360.1:p.Leu4576Ser