Canonical Allele Identifier: CA3202879

Gene: DNAH5

Linked Data

• dbSNP Id: rs767671155
• ExAC: 5:13793655 C / G
• gnomAD v2: 5-13793655-C-G
• gnomAD v4: 5-13793546-C-G
• MyVariant Identifiers: chr5:g.13793655C>G (hg19) ; chr5:g.13793546C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13793546C>G , CM000667.2:g.13793546C>G	GRCh38
NC_000005.9:g.13793655C>G , CM000667.1:g.13793655C>G	GRCh37
NC_000005.8:g.13846655C>G	NCBI36
NG_013081.1:g.155935G>C
NG_013081.2:g.155935G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.8193G>C MANE Select	ENSP00000265104.4:p.Leu2731Phe
ENST00000681290.1:c.8148G>C	ENSP00000505288.1:p.Leu2716Phe
ENST00000265104.4:c.8193G>C	ENSP00000265104.4:p.Leu2731Phe
NM_001369.2:c.8193G>C	NP_001360.1:p.Leu2731Phe
XM_005248262.2:c.8148G>C	XP_005248319.1:p.Leu2716Phe
XM_011513990.1:c.8193G>C	XP_011512292.1:p.Leu2731Phe
XR_925598.1:n.8400G>C
XM_005248262.3:c.8301G>C	XP_005248319.2:p.Leu2767Phe
XM_017009177.1:c.8301G>C	XP_016864666.1:p.Leu2767Phe
XM_017009178.1:c.7206G>C	XP_016864667.1:p.Leu2402Phe
XM_017009179.2:c.7206G>C	XP_016864668.1:p.Leu2402Phe
XM_017009180.1:c.8301G>C	XP_016864669.1:p.Leu2767Phe
XM_017009181.1:c.8301G>C	XP_016864670.1:p.Leu2767Phe
XM_017009182.1:c.8301G>C	XP_016864671.1:p.Leu2767Phe
XM_017009183.1:c.8301G>C	XP_016864672.1:p.Leu2767Phe
XM_017009184.1:c.8301G>C	XP_016864673.1:p.Leu2767Phe
XM_017009185.1:c.3390G>C	XP_016864674.1:p.Leu1130Phe
XM_017009186.1:c.2943G>C	XP_016864675.1:p.Leu981Phe
XM_017009188.1:c.2280G>C	XP_016864677.1:p.Leu760Phe
XM_024454388.1:c.7206G>C	XP_024310156.1:p.Leu2402Phe
XM_024454389.1:c.6795G>C	XP_024310157.1:p.Leu2265Phe
XR_001742034.1:n.8318G>C
XR_001742035.1:n.8318G>C
NM_001369.3:c.8193G>C MANE Select	NP_001360.1:p.Leu2731Phe