Canonical Allele Identifier: CA359189668

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 445801
• ClinVar RCV Id: RCV000513796
• dbSNP Id: rs1250778700
• gnomAD v2: 5-13752254-A-G
• gnomAD v3: 5-13752145-A-G
• gnomAD v4: 5-13752145-A-G
• MyVariant Identifiers: chr5:g.13752254A>G (hg19) ; chr5:g.13752145A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13752145A>G , CM000667.2:g.13752145A>G	GRCh38
NC_000005.9:g.13752254A>G , CM000667.1:g.13752254A>G	GRCh37
NC_000005.8:g.13805254A>G	NCBI36
NG_013081.1:g.197336T>C
NG_013081.2:g.197336T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.11017T>C MANE Select	ENSP00000265104.4:p.Ser3673Pro
ENST00000681290.1:c.10972T>C	ENSP00000505288.1:p.Ser3658Pro
ENST00000265104.4:c.11017T>C	ENSP00000265104.4:p.Ser3673Pro
NM_001369.2:c.11017T>C	NP_001360.1:p.Ser3673Pro
XM_005248262.2:c.10972T>C	XP_005248319.1:p.Ser3658Pro
XM_005248262.3:c.11125T>C	XP_005248319.2:p.Ser3709Pro
XM_017009177.1:c.11125T>C	XP_016864666.1:p.Ser3709Pro
XM_017009178.1:c.10030T>C	XP_016864667.1:p.Ser3344Pro
XM_017009179.2:c.10030T>C	XP_016864668.1:p.Ser3344Pro
XM_017009180.1:c.11125T>C	XP_016864669.1:p.Ser3709Pro
XM_017009181.1:c.11125T>C	XP_016864670.1:p.Ser3709Pro
XM_017009182.1:c.11125T>C	XP_016864671.1:p.Ser3709Pro
XM_017009185.1:c.6214T>C	XP_016864674.1:p.Ser2072Pro
XM_017009186.1:c.5767T>C	XP_016864675.1:p.Ser1923Pro
XM_017009188.1:c.5104T>C	XP_016864677.1:p.Ser1702Pro
XM_024454388.1:c.10030T>C	XP_024310156.1:p.Ser3344Pro
XM_024454389.1:c.9619T>C	XP_024310157.1:p.Ser3207Pro
NM_001369.3:c.11017T>C MANE Select	NP_001360.1:p.Ser3673Pro