Canonical Allele Identifier: CA3203700

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 3083991
• ClinVar RCV Id: RCV004376797
• dbSNP Id: rs754845694
• ExAC: 5:13841970 G / C
• gnomAD v2: 5-13841970-G-C
• gnomAD v4: 5-13841861-G-C
• MyVariant Identifiers: chr5:g.13841970G>C (hg19) ; chr5:g.13841861G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13841861G>C , CM000667.2:g.13841861G>C	GRCh38
NC_000005.9:g.13841970G>C , CM000667.1:g.13841970G>C	GRCh37
NC_000005.8:g.13894970G>C	NCBI36
NG_013081.1:g.107620C>G
NG_013081.2:g.107620C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.5315C>G MANE Select	ENSP00000265104.4:p.Thr1772Arg
ENST00000681290.1:c.5270C>G	ENSP00000505288.1:p.Thr1757Arg
ENST00000265104.4:c.5315C>G	ENSP00000265104.4:p.Thr1772Arg
NM_001369.2:c.5315C>G	NP_001360.1:p.Thr1772Arg
XM_005248262.2:c.5270C>G	XP_005248319.1:p.Thr1757Arg
XM_011513990.1:c.5315C>G	XP_011512292.1:p.Thr1772Arg
XR_925598.1:n.5522C>G
XM_005248262.3:c.5423C>G	XP_005248319.2:p.Thr1808Arg
XM_017009177.1:c.5423C>G	XP_016864666.1:p.Thr1808Arg
XM_017009178.1:c.4328C>G	XP_016864667.1:p.Thr1443Arg
XM_017009179.2:c.4328C>G	XP_016864668.1:p.Thr1443Arg
XM_017009180.1:c.5423C>G	XP_016864669.1:p.Thr1808Arg
XM_017009181.1:c.5423C>G	XP_016864670.1:p.Thr1808Arg
XM_017009182.1:c.5423C>G	XP_016864671.1:p.Thr1808Arg
XM_017009183.1:c.5423C>G	XP_016864672.1:p.Thr1808Arg
XM_017009184.1:c.5423C>G	XP_016864673.1:p.Thr1808Arg
XM_017009185.1:c.512C>G	XP_016864674.1:p.Thr171Arg
XM_017009186.1:c.65C>G	XP_016864675.1:p.Thr22Arg
XM_017009187.1:c.5423C>G	XP_016864676.1:p.Thr1808Arg
XM_024454388.1:c.4328C>G	XP_024310156.1:p.Thr1443Arg
XM_024454389.1:c.3917C>G	XP_024310157.1:p.Thr1306Arg
XR_001742034.1:n.5440C>G
XR_001742035.1:n.5440C>G
NM_001369.3:c.5315C>G MANE Select	NP_001360.1:p.Thr1772Arg