Canonical Allele Identifier: CA359192427

Gene: DNAH5

Linked Data

• dbSNP Id: rs1742082834
• gnomAD v4: 5-13701312-G-A
• MyVariant Identifiers: chr5:g.13701421G>A (hg19) ; chr5:g.13701312G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13701312G>A , CM000667.2:g.13701312G>A	GRCh38
NC_000005.9:g.13701421G>A , CM000667.1:g.13701421G>A	GRCh37
NC_000005.8:g.13754421G>A	NCBI36
NG_013081.1:g.248169C>T
NG_013081.2:g.248169C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.796C>T
ENST00000265104.5:c.13463C>T MANE Select	ENSP00000265104.4:p.Pro4488Leu
ENST00000681290.1:c.13418C>T	ENSP00000505288.1:p.Pro4473Leu
ENST00000265104.4:c.13463C>T	ENSP00000265104.4:p.Pro4488Leu
NM_001369.2:c.13463C>T	NP_001360.1:p.Pro4488Leu
XM_005248262.2:c.13418C>T	XP_005248319.1:p.Pro4473Leu
XM_005248262.3:c.13571C>T	XP_005248319.2:p.Pro4524Leu
XM_017009177.1:c.13151C>T	XP_016864666.1:p.Pro4384Leu
XM_017009178.1:c.12476C>T	XP_016864667.1:p.Pro4159Leu
XM_017009179.2:c.12476C>T	XP_016864668.1:p.Pro4159Leu
XM_017009185.1:c.8660C>T	XP_016864674.1:p.Pro2887Leu
XM_017009186.1:c.8213C>T	XP_016864675.1:p.Pro2738Leu
XM_017009188.1:c.7550C>T	XP_016864677.1:p.Pro2517Leu
XM_024454388.1:c.12476C>T	XP_024310156.1:p.Pro4159Leu
XM_024454389.1:c.12065C>T	XP_024310157.1:p.Pro4022Leu
NM_001369.3:c.13463C>T MANE Select	NP_001360.1:p.Pro4488Leu