Canonical Allele Identifier: CA359214428

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13844973-A-G
• MyVariant Identifiers: chr5:g.13845082A>G (hg19) ; chr5:g.13844973A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13844973A>G , CM000667.2:g.13844973A>G	GRCh38
NC_000005.9:g.13845082A>G , CM000667.1:g.13845082A>G	GRCh37
NC_000005.8:g.13898082A>G	NCBI36
NG_013081.1:g.104508T>C
NG_013081.2:g.104508T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.5135T>C MANE Select	ENSP00000265104.4:p.Leu1712Pro
ENST00000681290.1:c.5090T>C	ENSP00000505288.1:p.Leu1697Pro
ENST00000265104.4:c.5135T>C	ENSP00000265104.4:p.Leu1712Pro
NM_001369.2:c.5135T>C	NP_001360.1:p.Leu1712Pro
XM_005248262.2:c.5090T>C	XP_005248319.1:p.Leu1697Pro
XM_011513990.1:c.5135T>C	XP_011512292.1:p.Leu1712Pro
XR_925598.1:n.5342T>C
XM_005248262.3:c.5243T>C	XP_005248319.2:p.Leu1748Pro
XM_017009177.1:c.5243T>C	XP_016864666.1:p.Leu1748Pro
XM_017009178.1:c.4148T>C	XP_016864667.1:p.Leu1383Pro
XM_017009179.2:c.4148T>C	XP_016864668.1:p.Leu1383Pro
XM_017009180.1:c.5243T>C	XP_016864669.1:p.Leu1748Pro
XM_017009181.1:c.5243T>C	XP_016864670.1:p.Leu1748Pro
XM_017009182.1:c.5243T>C	XP_016864671.1:p.Leu1748Pro
XM_017009183.1:c.5243T>C	XP_016864672.1:p.Leu1748Pro
XM_017009184.1:c.5243T>C	XP_016864673.1:p.Leu1748Pro
XM_017009185.1:c.332T>C	XP_016864674.1:p.Leu111Pro
XM_017009186.1:c.22-3069T>C	XP_016864675.1:n.22-3069T>C
XM_017009187.1:c.5243T>C	XP_016864676.1:p.Leu1748Pro
XM_024454388.1:c.4148T>C	XP_024310156.1:p.Leu1383Pro
XM_024454389.1:c.3737T>C	XP_024310157.1:p.Leu1246Pro
XR_001742034.1:n.5260T>C
XR_001742035.1:n.5260T>C
NM_001369.3:c.5135T>C MANE Select	NP_001360.1:p.Leu1712Pro