Canonical Allele Identifier: CA359192235

Gene: DNAH5

Linked Data

• dbSNP Id: rs1554034969
• gnomAD v4: 5-13753511-C-G
• MyVariant Identifiers: chr5:g.13753620C>G (hg19) ; chr5:g.13753511C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13753511C>G , CM000667.2:g.13753511C>G	GRCh38
NC_000005.9:g.13753620C>G , CM000667.1:g.13753620C>G	GRCh37
NC_000005.8:g.13806620C>G	NCBI36
NG_013081.1:g.195970G>C
NG_013081.2:g.195970G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10594G>C MANE Select	ENSP00000265104.4:p.Gly3532Arg
ENST00000681290.1:c.10549G>C	ENSP00000505288.1:p.Gly3517Arg
ENST00000265104.4:c.10594G>C	ENSP00000265104.4:p.Gly3532Arg
NM_001369.2:c.10594G>C	NP_001360.1:p.Gly3532Arg
XM_005248262.2:c.10549G>C	XP_005248319.1:p.Gly3517Arg
XM_005248262.3:c.10702G>C	XP_005248319.2:p.Gly3568Arg
XM_017009177.1:c.10702G>C	XP_016864666.1:p.Gly3568Arg
XM_017009178.1:c.9607G>C	XP_016864667.1:p.Gly3203Arg
XM_017009179.2:c.9607G>C	XP_016864668.1:p.Gly3203Arg
XM_017009180.1:c.10702G>C	XP_016864669.1:p.Gly3568Arg
XM_017009181.1:c.10702G>C	XP_016864670.1:p.Gly3568Arg
XM_017009182.1:c.10702G>C	XP_016864671.1:p.Gly3568Arg
XM_017009185.1:c.5791G>C	XP_016864674.1:p.Gly1931Arg
XM_017009186.1:c.5344G>C	XP_016864675.1:p.Gly1782Arg
XM_017009188.1:c.4681G>C	XP_016864677.1:p.Gly1561Arg
XM_024454388.1:c.9607G>C	XP_024310156.1:p.Gly3203Arg
XM_024454389.1:c.9196G>C	XP_024310157.1:p.Gly3066Arg
NM_001369.3:c.10594G>C MANE Select	NP_001360.1:p.Gly3532Arg