Canonical Allele Identifier: CA359204305

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13770902G>C (hg19) ; chr5:g.13770793G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13770793G>C , CM000667.2:g.13770793G>C	GRCh38
NC_000005.9:g.13770902G>C , CM000667.1:g.13770902G>C	GRCh37
NC_000005.8:g.13823902G>C	NCBI36
NG_013081.1:g.178688C>G
NG_013081.2:g.178688C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9561C>G MANE Select	ENSP00000265104.4:p.Phe3187Leu
ENST00000681290.1:c.9516C>G	ENSP00000505288.1:p.Phe3172Leu
ENST00000265104.4:c.9561C>G	ENSP00000265104.4:p.Phe3187Leu
ENST00000504001.3:n.273C>G
NM_001369.2:c.9561C>G	NP_001360.1:p.Phe3187Leu
XM_005248262.2:c.9516C>G	XP_005248319.1:p.Phe3172Leu
XM_005248262.3:c.9669C>G	XP_005248319.2:p.Phe3223Leu
XM_017009177.1:c.9669C>G	XP_016864666.1:p.Phe3223Leu
XM_017009178.1:c.8574C>G	XP_016864667.1:p.Phe2858Leu
XM_017009179.2:c.8574C>G	XP_016864668.1:p.Phe2858Leu
XM_017009180.1:c.9669C>G	XP_016864669.1:p.Phe3223Leu
XM_017009181.1:c.9669C>G	XP_016864670.1:p.Phe3223Leu
XM_017009182.1:c.9669C>G	XP_016864671.1:p.Phe3223Leu
XM_017009183.1:c.9669C>G	XP_016864672.1:p.Phe3223Leu
XM_017009185.1:c.4758C>G	XP_016864674.1:p.Phe1586Leu
XM_017009186.1:c.4311C>G	XP_016864675.1:p.Phe1437Leu
XM_017009188.1:c.3648C>G	XP_016864677.1:p.Phe1216Leu
XM_024454388.1:c.8574C>G	XP_024310156.1:p.Phe2858Leu
XM_024454389.1:c.8163C>G	XP_024310157.1:p.Phe2721Leu
NM_001369.3:c.9561C>G MANE Select	NP_001360.1:p.Phe3187Leu