Canonical Allele Identifier: CA359208520

Gene: DNAH5

Linked Data

• dbSNP Id: rs1237905198
• gnomAD v2: 5-13717629-C-T
• gnomAD v4: 5-13717520-C-T
• MyVariant Identifiers: chr5:g.13717629C>T (hg19) ; chr5:g.13717520C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13717520C>T , CM000667.2:g.13717520C>T	GRCh38
NC_000005.9:g.13717629C>T , CM000667.1:g.13717629C>T	GRCh37
NC_000005.8:g.13770629C>T	NCBI36
NG_013081.1:g.231961G>A
NG_013081.2:g.231961G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.12500G>A MANE Select	ENSP00000265104.4:p.Gly4167Asp
ENST00000681290.1:c.12455G>A	ENSP00000505288.1:p.Gly4152Asp
ENST00000265104.4:c.12500G>A	ENSP00000265104.4:p.Gly4167Asp
NM_001369.2:c.12500G>A	NP_001360.1:p.Gly4167Asp
XM_005248262.2:c.12455G>A	XP_005248319.1:p.Gly4152Asp
XM_005248262.3:c.12608G>A	XP_005248319.2:p.Gly4203Asp
XM_017009177.1:c.12608G>A	XP_016864666.1:p.Gly4203Asp
XM_017009178.1:c.11513G>A	XP_016864667.1:p.Gly3838Asp
XM_017009179.2:c.11513G>A	XP_016864668.1:p.Gly3838Asp
XM_017009180.1:c.12608G>A	XP_016864669.1:p.Gly4203Asp
XM_017009185.1:c.7697G>A	XP_016864674.1:p.Gly2566Asp
XM_017009186.1:c.7250G>A	XP_016864675.1:p.Gly2417Asp
XM_017009188.1:c.6587G>A	XP_016864677.1:p.Gly2196Asp
XM_024454388.1:c.11513G>A	XP_024310156.1:p.Gly3838Asp
XM_024454389.1:c.11102G>A	XP_024310157.1:p.Gly3701Asp
NM_001369.3:c.12500G>A MANE Select	NP_001360.1:p.Gly4167Asp