Canonical Allele Identifier: CA3201695

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 257993
• ClinVar RCV Id: RCV000251840 ; RCV000812834
• dbSNP Id: rs762179184
• ExAC: 5:13721103 C / G
• gnomAD v2: 5-13721103-C-G
• gnomAD v3: 5-13720994-C-G
• gnomAD v4: 5-13720994-C-G
• MyVariant Identifiers: chr5:g.13721103C>G (hg19) ; chr5:g.13720994C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13720994C>G , CM000667.2:g.13720994C>G	GRCh38
NC_000005.9:g.13721103C>G , CM000667.1:g.13721103C>G	GRCh37
NC_000005.8:g.13774103C>G	NCBI36
NG_013081.1:g.228487G>C
NG_013081.2:g.228487G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.12279+6G>C MANE Select	ENSP00000265104.4:n.12279+6G>C
ENST00000681290.1:c.12234+6G>C	ENSP00000505288.1:n.12234+6G>C
ENST00000265104.4:c.12279+6G>C	ENSP00000265104.4:n.12279+6G>C
NM_001369.2:c.12279+6G>C	NP_001360.1:n.12279+6G>C
XM_005248262.2:c.12234+6G>C	XP_005248319.1:n.12234+6G>C
XM_005248262.3:c.12387+6G>C	XP_005248319.2:n.12387+6G>C
XM_017009177.1:c.12387+6G>C	XP_016864666.1:n.12387+6G>C
XM_017009178.1:c.11292+6G>C	XP_016864667.1:n.11292+6G>C
XM_017009179.2:c.11292+6G>C	XP_016864668.1:n.11292+6G>C
XM_017009180.1:c.12387+6G>C	XP_016864669.1:n.12387+6G>C
XM_017009185.1:c.7476+6G>C	XP_016864674.1:n.7476+6G>C
XM_017009186.1:c.7029+6G>C	XP_016864675.1:n.7029+6G>C
XM_017009188.1:c.6366+6G>C	XP_016864677.1:n.6366+6G>C
XM_024454388.1:c.11292+6G>C	XP_024310156.1:n.11292+6G>C
XM_024454389.1:c.10881+6G>C	XP_024310157.1:n.10881+6G>C
NM_001369.3:c.12279+6G>C MANE Select	NP_001360.1:n.12279+6G>C