Canonical Allele Identifier: CA359190285

Gene: DNAH5

Linked Data

• dbSNP Id: rs1750340127
• gnomAD v3: 5-13752238-A-G
• gnomAD v4: 5-13752238-A-G
• MyVariant Identifiers: chr5:g.13752347A>G (hg19) ; chr5:g.13752238A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13752238A>G , CM000667.2:g.13752238A>G	GRCh38
NC_000005.9:g.13752347A>G , CM000667.1:g.13752347A>G	GRCh37
NC_000005.8:g.13805347A>G	NCBI36
NG_013081.1:g.197243T>C
NG_013081.2:g.197243T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10924T>C MANE Select	ENSP00000265104.4:p.Ser3642Pro
ENST00000681290.1:c.10879T>C	ENSP00000505288.1:p.Ser3627Pro
ENST00000265104.4:c.10924T>C	ENSP00000265104.4:p.Ser3642Pro
NM_001369.2:c.10924T>C	NP_001360.1:p.Ser3642Pro
XM_005248262.2:c.10879T>C	XP_005248319.1:p.Ser3627Pro
XM_005248262.3:c.11032T>C	XP_005248319.2:p.Ser3678Pro
XM_017009177.1:c.11032T>C	XP_016864666.1:p.Ser3678Pro
XM_017009178.1:c.9937T>C	XP_016864667.1:p.Ser3313Pro
XM_017009179.2:c.9937T>C	XP_016864668.1:p.Ser3313Pro
XM_017009180.1:c.11032T>C	XP_016864669.1:p.Ser3678Pro
XM_017009181.1:c.11032T>C	XP_016864670.1:p.Ser3678Pro
XM_017009182.1:c.11032T>C	XP_016864671.1:p.Ser3678Pro
XM_017009185.1:c.6121T>C	XP_016864674.1:p.Ser2041Pro
XM_017009186.1:c.5674T>C	XP_016864675.1:p.Ser1892Pro
XM_017009188.1:c.5011T>C	XP_016864677.1:p.Ser1671Pro
XM_024454388.1:c.9937T>C	XP_024310156.1:p.Ser3313Pro
XM_024454389.1:c.9526T>C	XP_024310157.1:p.Ser3176Pro
NM_001369.3:c.10924T>C MANE Select	NP_001360.1:p.Ser3642Pro