Canonical Allele Identifier: CA3202089

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 1480527
• ClinVar RCV Id: RCV001985964
• dbSNP Id: rs138486840
• ExAC: 5:13752311 C / G
• gnomAD v2: 5-13752311-C-G
• gnomAD v3: 5-13752202-C-G
• gnomAD v4: 5-13752202-C-G
• MyVariant Identifiers: chr5:g.13752311C>G (hg19) ; chr5:g.13752202C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13752202C>G , CM000667.2:g.13752202C>G	GRCh38
NC_000005.9:g.13752311C>G , CM000667.1:g.13752311C>G	GRCh37
NC_000005.8:g.13805311C>G	NCBI36
NG_013081.1:g.197279G>C
NG_013081.2:g.197279G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10960G>C MANE Select	ENSP00000265104.4:p.Glu3654Gln
ENST00000681290.1:c.10915G>C	ENSP00000505288.1:p.Glu3639Gln
ENST00000265104.4:c.10960G>C	ENSP00000265104.4:p.Glu3654Gln
NM_001369.2:c.10960G>C	NP_001360.1:p.Glu3654Gln
XM_005248262.2:c.10915G>C	XP_005248319.1:p.Glu3639Gln
XM_005248262.3:c.11068G>C	XP_005248319.2:p.Glu3690Gln
XM_017009177.1:c.11068G>C	XP_016864666.1:p.Glu3690Gln
XM_017009178.1:c.9973G>C	XP_016864667.1:p.Glu3325Gln
XM_017009179.2:c.9973G>C	XP_016864668.1:p.Glu3325Gln
XM_017009180.1:c.11068G>C	XP_016864669.1:p.Glu3690Gln
XM_017009181.1:c.11068G>C	XP_016864670.1:p.Glu3690Gln
XM_017009182.1:c.11068G>C	XP_016864671.1:p.Glu3690Gln
XM_017009185.1:c.6157G>C	XP_016864674.1:p.Glu2053Gln
XM_017009186.1:c.5710G>C	XP_016864675.1:p.Glu1904Gln
XM_017009188.1:c.5047G>C	XP_016864677.1:p.Glu1683Gln
XM_024454388.1:c.9973G>C	XP_024310156.1:p.Glu3325Gln
XM_024454389.1:c.9562G>C	XP_024310157.1:p.Glu3188Gln
NM_001369.3:c.10960G>C MANE Select	NP_001360.1:p.Glu3654Gln