Canonical Allele Identifier: CA3201488

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 351009
• ClinVar RCV Id: RCV000325468 ; RCV002523505
• dbSNP Id: rs769666008
• ExAC: 5:13714702 C / G
• gnomAD v2: 5-13714702-C-G
• gnomAD v3: 5-13714593-C-G
• gnomAD v4: 5-13714593-C-G
• MyVariant Identifiers: chr5:g.13714702C>G (hg19) ; chr5:g.13714593C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13714593C>G , CM000667.2:g.13714593C>G	GRCh38
NC_000005.9:g.13714702C>G , CM000667.1:g.13714702C>G	GRCh37
NC_000005.8:g.13767702C>G	NCBI36
NG_013081.1:g.234888G>C
NG_013081.2:g.234888G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.270G>C
ENST00000265104.5:c.12937G>C MANE Select	ENSP00000265104.4:p.Val4313Leu
ENST00000681290.1:c.12892G>C	ENSP00000505288.1:p.Val4298Leu
ENST00000265104.4:c.12937G>C	ENSP00000265104.4:p.Val4313Leu
NM_001369.2:c.12937G>C	NP_001360.1:p.Val4313Leu
XM_005248262.2:c.12892G>C	XP_005248319.1:p.Val4298Leu
XM_005248262.3:c.13045G>C	XP_005248319.2:p.Val4349Leu
XM_017009177.1:c.12813+2722G>C	XP_016864666.1:n.12813+2722G>C
XM_017009178.1:c.11950G>C	XP_016864667.1:p.Val3984Leu
XM_017009179.2:c.11950G>C	XP_016864668.1:p.Val3984Leu
XM_017009185.1:c.8134G>C	XP_016864674.1:p.Val2712Leu
XM_017009186.1:c.7687G>C	XP_016864675.1:p.Val2563Leu
XM_017009188.1:c.7024G>C	XP_016864677.1:p.Val2342Leu
XM_024454388.1:c.11950G>C	XP_024310156.1:p.Val3984Leu
XM_024454389.1:c.11539G>C	XP_024310157.1:p.Val3847Leu
NM_001369.3:c.12937G>C MANE Select	NP_001360.1:p.Val4313Leu