Canonical Allele Identifier: CA359201946

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 1800502
• ClinVar RCV Id: RCV002461641
• dbSNP Id: rs1327288599
• gnomAD v2: 5-13769164-C-T
• gnomAD v4: 5-13769055-C-T
• COSMIC: COSM5574571
• MyVariant Identifiers: chr5:g.13769164C>T (hg19) ; chr5:g.13769055C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13769055C>T , CM000667.2:g.13769055C>T	GRCh38
NC_000005.9:g.13769164C>T , CM000667.1:g.13769164C>T	GRCh37
NC_000005.8:g.13822164C>T	NCBI36
NG_013081.1:g.180426G>A
NG_013081.2:g.180426G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.9802G>A MANE Select	ENSP00000265104.4:p.Ala3268Thr
ENST00000681290.1:c.9757G>A	ENSP00000505288.1:p.Ala3253Thr
ENST00000265104.4:c.9802G>A	ENSP00000265104.4:p.Ala3268Thr
ENST00000504001.3:n.514G>A
NM_001369.2:c.9802G>A	NP_001360.1:p.Ala3268Thr
XM_005248262.2:c.9757G>A	XP_005248319.1:p.Ala3253Thr
XM_005248262.3:c.9910G>A	XP_005248319.2:p.Ala3304Thr
XM_017009177.1:c.9910G>A	XP_016864666.1:p.Ala3304Thr
XM_017009178.1:c.8815G>A	XP_016864667.1:p.Ala2939Thr
XM_017009179.2:c.8815G>A	XP_016864668.1:p.Ala2939Thr
XM_017009180.1:c.9910G>A	XP_016864669.1:p.Ala3304Thr
XM_017009181.1:c.9910G>A	XP_016864670.1:p.Ala3304Thr
XM_017009182.1:c.9910G>A	XP_016864671.1:p.Ala3304Thr
XM_017009185.1:c.4999G>A	XP_016864674.1:p.Ala1667Thr
XM_017009186.1:c.4552G>A	XP_016864675.1:p.Ala1518Thr
XM_017009188.1:c.3889G>A	XP_016864677.1:p.Ala1297Thr
XM_024454388.1:c.8815G>A	XP_024310156.1:p.Ala2939Thr
XM_024454389.1:c.8404G>A	XP_024310157.1:p.Ala2802Thr
NM_001369.3:c.9802G>A MANE Select	NP_001360.1:p.Ala3268Thr