Canonical Allele Identifier: CA359191600

Gene: DNAH5

Linked Data

• dbSNP Id: rs1409719852
• gnomAD v3: 5-13753388-T-G
• gnomAD v4: 5-13753388-T-G
• MyVariant Identifiers: chr5:g.13753497T>G (hg19) ; chr5:g.13753388T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13753388T>G , CM000667.2:g.13753388T>G	GRCh38
NC_000005.9:g.13753497T>G , CM000667.1:g.13753497T>G	GRCh37
NC_000005.8:g.13806497T>G	NCBI36
NG_013081.1:g.196093A>C
NG_013081.2:g.196093A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10717A>C MANE Select	ENSP00000265104.4:p.Ile3573Leu
ENST00000681290.1:c.10672A>C	ENSP00000505288.1:p.Ile3558Leu
ENST00000265104.4:c.10717A>C	ENSP00000265104.4:p.Ile3573Leu
NM_001369.2:c.10717A>C	NP_001360.1:p.Ile3573Leu
XM_005248262.2:c.10672A>C	XP_005248319.1:p.Ile3558Leu
XM_005248262.3:c.10825A>C	XP_005248319.2:p.Ile3609Leu
XM_017009177.1:c.10825A>C	XP_016864666.1:p.Ile3609Leu
XM_017009178.1:c.9730A>C	XP_016864667.1:p.Ile3244Leu
XM_017009179.2:c.9730A>C	XP_016864668.1:p.Ile3244Leu
XM_017009180.1:c.10825A>C	XP_016864669.1:p.Ile3609Leu
XM_017009181.1:c.10825A>C	XP_016864670.1:p.Ile3609Leu
XM_017009182.1:c.10825A>C	XP_016864671.1:p.Ile3609Leu
XM_017009185.1:c.5914A>C	XP_016864674.1:p.Ile1972Leu
XM_017009186.1:c.5467A>C	XP_016864675.1:p.Ile1823Leu
XM_017009188.1:c.4804A>C	XP_016864677.1:p.Ile1602Leu
XM_024454388.1:c.9730A>C	XP_024310156.1:p.Ile3244Leu
XM_024454389.1:c.9319A>C	XP_024310157.1:p.Ile3107Leu
NM_001369.3:c.10717A>C MANE Select	NP_001360.1:p.Ile3573Leu