Canonical Allele Identifier: CA3201234

Gene: DNAH5

Linked Data

• dbSNP Id: rs770244453
• ExAC: 5:13692151 G / A
• gnomAD v2: 5-13692151-G-A
• MyVariant Identifiers: chr5:g.13692151G>A (hg19) ; chr5:g.13692042G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692042G>A , CM000667.2:g.13692042G>A	GRCh38
NC_000005.9:g.13692151G>A , CM000667.1:g.13692151G>A	GRCh37
NC_000005.8:g.13745151G>A	NCBI36
NG_013081.1:g.257439C>T
NG_013081.2:g.257439C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000683611.1:n.1150C>T
ENST00000265104.5:c.13817C>T MANE Select	ENSP00000265104.4:p.Ala4606Val
ENST00000681290.1:c.13772C>T	ENSP00000505288.1:p.Ala4591Val
ENST00000265104.4:c.13817C>T	ENSP00000265104.4:p.Ala4606Val
NM_001369.2:c.13817C>T	NP_001360.1:p.Ala4606Val
XM_005248262.2:c.13772C>T	XP_005248319.1:p.Ala4591Val
XM_005248262.3:c.13925C>T	XP_005248319.2:p.Ala4642Val
XM_017009177.1:c.13505C>T	XP_016864666.1:p.Ala4502Val
XM_017009178.1:c.12830C>T	XP_016864667.1:p.Ala4277Val
XM_017009179.2:c.12830C>T	XP_016864668.1:p.Ala4277Val
XM_017009185.1:c.9014C>T	XP_016864674.1:p.Ala3005Val
XM_017009186.1:c.8567C>T	XP_016864675.1:p.Ala2856Val
XM_017009188.1:c.7904C>T	XP_016864677.1:p.Ala2635Val
XM_024454388.1:c.12830C>T	XP_024310156.1:p.Ala4277Val
XM_024454389.1:c.12419C>T	XP_024310157.1:p.Ala4140Val
NM_001369.3:c.13817C>T MANE Select	NP_001360.1:p.Ala4606Val