Canonical Allele Identifier: CA359192294

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13753526-A-G
• MyVariant Identifiers: chr5:g.13753635A>G (hg19) ; chr5:g.13753526A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13753526A>G , CM000667.2:g.13753526A>G	GRCh38
NC_000005.9:g.13753635A>G , CM000667.1:g.13753635A>G	GRCh37
NC_000005.8:g.13806635A>G	NCBI36
NG_013081.1:g.195955T>C
NG_013081.2:g.195955T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10579T>C MANE Select	ENSP00000265104.4:p.Phe3527Leu
ENST00000681290.1:c.10534T>C	ENSP00000505288.1:p.Phe3512Leu
ENST00000265104.4:c.10579T>C	ENSP00000265104.4:p.Phe3527Leu
NM_001369.2:c.10579T>C	NP_001360.1:p.Phe3527Leu
XM_005248262.2:c.10534T>C	XP_005248319.1:p.Phe3512Leu
XM_005248262.3:c.10687T>C	XP_005248319.2:p.Phe3563Leu
XM_017009177.1:c.10687T>C	XP_016864666.1:p.Phe3563Leu
XM_017009178.1:c.9592T>C	XP_016864667.1:p.Phe3198Leu
XM_017009179.2:c.9592T>C	XP_016864668.1:p.Phe3198Leu
XM_017009180.1:c.10687T>C	XP_016864669.1:p.Phe3563Leu
XM_017009181.1:c.10687T>C	XP_016864670.1:p.Phe3563Leu
XM_017009182.1:c.10687T>C	XP_016864671.1:p.Phe3563Leu
XM_017009185.1:c.5776T>C	XP_016864674.1:p.Phe1926Leu
XM_017009186.1:c.5329T>C	XP_016864675.1:p.Phe1777Leu
XM_017009188.1:c.4666T>C	XP_016864677.1:p.Phe1556Leu
XM_024454388.1:c.9592T>C	XP_024310156.1:p.Phe3198Leu
XM_024454389.1:c.9181T>C	XP_024310157.1:p.Phe3061Leu
NM_001369.3:c.10579T>C MANE Select	NP_001360.1:p.Phe3527Leu