Canonical Allele Identifier: CA3202551

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 2051750
• ClinVar RCV Id: RCV002927492
• dbSNP Id: rs561495955
• ExAC: 5:13771059 A / G
• gnomAD v2: 5-13771059-A-G
• gnomAD v3: 5-13770950-A-G
• gnomAD v4: 5-13770950-A-G
• MyVariant Identifiers: chr5:g.13771059A>G (hg19) ; chr5:g.13770950A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13770950A>G , CM000667.2:g.13770950A>G	GRCh38
NC_000005.9:g.13771059A>G , CM000667.1:g.13771059A>G	GRCh37
NC_000005.8:g.13824059A>G	NCBI36
NG_013081.1:g.178531T>C
NG_013081.2:g.178531T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9404T>C MANE Select	ENSP00000265104.4:p.Ile3135Thr
ENST00000681290.1:c.9359T>C	ENSP00000505288.1:p.Ile3120Thr
ENST00000265104.4:c.9404T>C	ENSP00000265104.4:p.Ile3135Thr
ENST00000504001.3:n.116T>C
NM_001369.2:c.9404T>C	NP_001360.1:p.Ile3135Thr
XM_005248262.2:c.9359T>C	XP_005248319.1:p.Ile3120Thr
XM_005248262.3:c.9512T>C	XP_005248319.2:p.Ile3171Thr
XM_017009177.1:c.9512T>C	XP_016864666.1:p.Ile3171Thr
XM_017009178.1:c.8417T>C	XP_016864667.1:p.Ile2806Thr
XM_017009179.2:c.8417T>C	XP_016864668.1:p.Ile2806Thr
XM_017009180.1:c.9512T>C	XP_016864669.1:p.Ile3171Thr
XM_017009181.1:c.9512T>C	XP_016864670.1:p.Ile3171Thr
XM_017009182.1:c.9512T>C	XP_016864671.1:p.Ile3171Thr
XM_017009183.1:c.9512T>C	XP_016864672.1:p.Ile3171Thr
XM_017009185.1:c.4601T>C	XP_016864674.1:p.Ile1534Thr
XM_017009186.1:c.4154T>C	XP_016864675.1:p.Ile1385Thr
XM_017009188.1:c.3491T>C	XP_016864677.1:p.Ile1164Thr
XM_024454388.1:c.8417T>C	XP_024310156.1:p.Ile2806Thr
XM_024454389.1:c.8006T>C	XP_024310157.1:p.Ile2669Thr
NM_001369.3:c.9404T>C MANE Select	NP_001360.1:p.Ile3135Thr