Canonical Allele Identifier: CA3201582

Gene: DNAH5

Linked Data

• dbSNP Id: rs780718067
• ExAC: 5:13717507 T / G
• gnomAD v2: 5-13717507-T-G
• gnomAD v3: 5-13717398-T-G
• gnomAD v4: 5-13717398-T-G
• MyVariant Identifiers: chr5:g.13717507T>G (hg19) ; chr5:g.13717398T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13717398T>G , CM000667.2:g.13717398T>G	GRCh38
NC_000005.9:g.13717507T>G , CM000667.1:g.13717507T>G	GRCh37
NC_000005.8:g.13770507T>G	NCBI36
NG_013081.1:g.232083A>C
NG_013081.2:g.232083A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.12622A>C MANE Select	ENSP00000265104.4:p.Ile4208Leu
ENST00000681290.1:c.12577A>C	ENSP00000505288.1:p.Ile4193Leu
ENST00000265104.4:c.12622A>C	ENSP00000265104.4:p.Ile4208Leu
NM_001369.2:c.12622A>C	NP_001360.1:p.Ile4208Leu
XM_005248262.2:c.12577A>C	XP_005248319.1:p.Ile4193Leu
XM_005248262.3:c.12730A>C	XP_005248319.2:p.Ile4244Leu
XM_017009177.1:c.12730A>C	XP_016864666.1:p.Ile4244Leu
XM_017009178.1:c.11635A>C	XP_016864667.1:p.Ile3879Leu
XM_017009179.2:c.11635A>C	XP_016864668.1:p.Ile3879Leu
XM_017009180.1:c.12730A>C	XP_016864669.1:p.Ile4244Leu
XM_017009185.1:c.7819A>C	XP_016864674.1:p.Ile2607Leu
XM_017009186.1:c.7372A>C	XP_016864675.1:p.Ile2458Leu
XM_017009188.1:c.6709A>C	XP_016864677.1:p.Ile2237Leu
XM_024454388.1:c.11635A>C	XP_024310156.1:p.Ile3879Leu
XM_024454389.1:c.11224A>C	XP_024310157.1:p.Ile3742Leu
NM_001369.3:c.12622A>C MANE Select	NP_001360.1:p.Ile4208Leu