Canonical Allele Identifier: CA3201224

Gene: DNAH5

Linked Data

• dbSNP Id: rs756083157
• ExAC: 5:13692055 C / A
• gnomAD v2: 5-13692055-C-A
• gnomAD v4: 5-13691946-C-A
• MyVariant Identifiers: chr5:g.13692055C>A (hg19) ; chr5:g.13691946C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13691946C>A , CM000667.2:g.13691946C>A	GRCh38
NC_000005.9:g.13692055C>A , CM000667.1:g.13692055C>A	GRCh37
NC_000005.8:g.13745055C>A	NCBI36
NG_013081.1:g.257535G>T
NG_013081.2:g.257535G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000683611.1:n.1246G>T
ENST00000265104.5:c.*38G>T MANE Select	ENSP00000265104.4:n.*38G>T
ENST00000681290.1:c.*38G>T	ENSP00000505288.1:n.*38G>T
ENST00000265104.4:c.*38G>T	ENSP00000265104.4:n.*38G>T
NM_001369.2:c.*38G>T	NP_001360.1:n.*38G>T
XM_005248262.2:c.*38G>T	XP_005248319.1:n.*38G>T
XM_005248262.3:c.*38G>T	XP_005248319.2:n.*38G>T
XM_017009177.1:c.*38G>T	XP_016864666.1:n.*38G>T
XM_017009178.1:c.*38G>T	XP_016864667.1:n.*38G>T
XM_017009179.2:c.*38G>T	XP_016864668.1:n.*38G>T
XM_017009185.1:c.*38G>T	XP_016864674.1:n.*38G>T
XM_017009186.1:c.*38G>T	XP_016864675.1:n.*38G>T
XM_017009188.1:c.*38G>T	XP_016864677.1:n.*38G>T
XM_024454388.1:c.*38G>T	XP_024310156.1:n.*38G>T
XM_024454389.1:c.*38G>T	XP_024310157.1:n.*38G>T
NM_001369.3:c.*38G>T MANE Select	NP_001360.1:n.*38G>T