Canonical Allele Identifier: CA359188782

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13692242A>C (hg19) ; chr5:g.13692133A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692133A>C , CM000667.2:g.13692133A>C	GRCh38
NC_000005.9:g.13692242A>C , CM000667.1:g.13692242A>C	GRCh37
NC_000005.8:g.13745242A>C	NCBI36
NG_013081.1:g.257348T>G
NG_013081.2:g.257348T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1059T>G
ENST00000265104.5:c.13726T>G MANE Select	ENSP00000265104.4:p.Leu4576Val
ENST00000681290.1:c.13681T>G	ENSP00000505288.1:p.Leu4561Val
ENST00000265104.4:c.13726T>G	ENSP00000265104.4:p.Leu4576Val
NM_001369.2:c.13726T>G	NP_001360.1:p.Leu4576Val
XM_005248262.2:c.13681T>G	XP_005248319.1:p.Leu4561Val
XM_005248262.3:c.13834T>G	XP_005248319.2:p.Leu4612Val
XM_017009177.1:c.13414T>G	XP_016864666.1:p.Leu4472Val
XM_017009178.1:c.12739T>G	XP_016864667.1:p.Leu4247Val
XM_017009179.2:c.12739T>G	XP_016864668.1:p.Leu4247Val
XM_017009185.1:c.8923T>G	XP_016864674.1:p.Leu2975Val
XM_017009186.1:c.8476T>G	XP_016864675.1:p.Leu2826Val
XM_017009188.1:c.7813T>G	XP_016864677.1:p.Leu2605Val
XM_024454388.1:c.12739T>G	XP_024310156.1:p.Leu4247Val
XM_024454389.1:c.12328T>G	XP_024310157.1:p.Leu4110Val
NM_001369.3:c.13726T>G MANE Select	NP_001360.1:p.Leu4576Val