Canonical Allele Identifier: CA804349511

Gene: DNAH5

Linked Data

• dbSNP Id: rs1316512219
• gnomAD v3: 5-13691880-T-C
• gnomAD v4: 5-13691880-T-C
• MyVariant Identifiers: chr5:g.13691989T>C (hg19) ; chr5:g.13691880T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13691880T>C , CM000667.2:g.13691880T>C	GRCh38
NC_000005.9:g.13691989T>C , CM000667.1:g.13691989T>C	GRCh37
NC_000005.8:g.13744989T>C	NCBI36
NG_013081.1:g.257601A>G
NG_013081.2:g.257601A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1312A>G
ENST00000265104.5:c.*104A>G MANE Select	ENSP00000265104.4:n.*104A>G
ENST00000681290.1:c.*104A>G	ENSP00000505288.1:n.*104A>G
ENST00000265104.4:c.*104A>G	ENSP00000265104.4:n.*104A>G
NM_001369.2:c.*104A>G	NP_001360.1:n.*104A>G
XM_005248262.2:c.*104A>G	XP_005248319.1:n.*104A>G
XM_005248262.3:c.*104A>G	XP_005248319.2:n.*104A>G
XM_017009177.1:c.*104A>G	XP_016864666.1:n.*104A>G
XM_017009178.1:c.*104A>G	XP_016864667.1:n.*104A>G
XM_017009179.2:c.*104A>G	XP_016864668.1:n.*104A>G
XM_017009185.1:c.*104A>G	XP_016864674.1:n.*104A>G
XM_017009186.1:c.*104A>G	XP_016864675.1:n.*104A>G
XM_017009188.1:c.*104A>G	XP_016864677.1:n.*104A>G
XM_024454388.1:c.*104A>G	XP_024310156.1:n.*104A>G
XM_024454389.1:c.*104A>G	XP_024310157.1:n.*104A>G
NM_001369.3:c.*104A>G MANE Select	NP_001360.1:n.*104A>G