Canonical Allele Identifier: CA359201233

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13768964-A-G
• MyVariant Identifiers: chr5:g.13769073A>G (hg19) ; chr5:g.13768964A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13768964A>G , CM000667.2:g.13768964A>G	GRCh38
NC_000005.9:g.13769073A>G , CM000667.1:g.13769073A>G	GRCh37
NC_000005.8:g.13822073A>G	NCBI36
NG_013081.1:g.180517T>C
NG_013081.2:g.180517T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9893T>C MANE Select	ENSP00000265104.4:p.Leu3298Ser
ENST00000681290.1:c.9848T>C	ENSP00000505288.1:p.Leu3283Ser
ENST00000265104.4:c.9893T>C	ENSP00000265104.4:p.Leu3298Ser
ENST00000504001.3:n.605T>C
NM_001369.2:c.9893T>C	NP_001360.1:p.Leu3298Ser
XM_005248262.2:c.9848T>C	XP_005248319.1:p.Leu3283Ser
XM_005248262.3:c.10001T>C	XP_005248319.2:p.Leu3334Ser
XM_017009177.1:c.10001T>C	XP_016864666.1:p.Leu3334Ser
XM_017009178.1:c.8906T>C	XP_016864667.1:p.Leu2969Ser
XM_017009179.2:c.8906T>C	XP_016864668.1:p.Leu2969Ser
XM_017009180.1:c.10001T>C	XP_016864669.1:p.Leu3334Ser
XM_017009181.1:c.10001T>C	XP_016864670.1:p.Leu3334Ser
XM_017009182.1:c.10001T>C	XP_016864671.1:p.Leu3334Ser
XM_017009185.1:c.5090T>C	XP_016864674.1:p.Leu1697Ser
XM_017009186.1:c.4643T>C	XP_016864675.1:p.Leu1548Ser
XM_017009188.1:c.3980T>C	XP_016864677.1:p.Leu1327Ser
XM_024454388.1:c.8906T>C	XP_024310156.1:p.Leu2969Ser
XM_024454389.1:c.8495T>C	XP_024310157.1:p.Leu2832Ser
NM_001369.3:c.9893T>C MANE Select	NP_001360.1:p.Leu3298Ser