Canonical Allele Identifier: CA113908294

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 1290465
• ClinVar RCV Id: RCV001715253
• dbSNP Id: rs6883283
• gnomAD v2: 5-13701167-A-G
• gnomAD v3: 5-13701058-A-G
• gnomAD v4: 5-13701058-A-G
• MyVariant Identifiers: chr5:g.13701167A>G (hg19) ; chr5:g.13701058A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13701058A>G , CM000667.2:g.13701058A>G	GRCh38
NC_000005.9:g.13701167A>G , CM000667.1:g.13701167A>G	GRCh37
NC_000005.8:g.13754167A>G	NCBI36
NG_013081.1:g.248423T>C
NG_013081.2:g.248423T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.825-187T>C
ENST00000265104.5:c.13492-187T>C MANE Select	ENSP00000265104.4:n.13492-187T>C
ENST00000681290.1:c.13447-187T>C	ENSP00000505288.1:n.13447-187T>C
ENST00000265104.4:c.13492-187T>C	ENSP00000265104.4:n.13492-187T>C
NM_001369.2:c.13492-187T>C	NP_001360.1:n.13492-187T>C
XM_005248262.2:c.13447-187T>C	XP_005248319.1:n.13447-187T>C
XM_005248262.3:c.13600-187T>C	XP_005248319.2:n.13600-187T>C
XM_017009177.1:c.13180-187T>C	XP_016864666.1:n.13180-187T>C
XM_017009178.1:c.12505-187T>C	XP_016864667.1:n.12505-187T>C
XM_017009179.2:c.12505-187T>C	XP_016864668.1:n.12505-187T>C
XM_017009185.1:c.8689-187T>C	XP_016864674.1:n.8689-187T>C
XM_017009186.1:c.8242-187T>C	XP_016864675.1:n.8242-187T>C
XM_017009188.1:c.7579-187T>C	XP_016864677.1:n.7579-187T>C
XM_024454388.1:c.12505-187T>C	XP_024310156.1:n.12505-187T>C
XM_024454389.1:c.12094-187T>C	XP_024310157.1:n.12094-187T>C
NM_001369.3:c.13492-187T>C MANE Select	NP_001360.1:n.13492-187T>C