Canonical Allele Identifier: CA1073394332

Gene: DNAH5

Linked Data

• dbSNP Id: rs1754082592
• gnomAD v3: 5-13776337-C-G
• gnomAD v4: 5-13776337-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13776337C>G , CM000667.2:g.13776337C>G	GRCh38
NC_000005.9:g.13776446C>G , CM000667.1:g.13776446C>G	GRCh37
NC_000005.8:g.13829446C>G	NCBI36
NG_013081.1:g.173144G>C
NG_013081.2:g.173144G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9373+102G>C MANE Select	ENSP00000265104.4:n.9373+102G>C
ENST00000681290.1:c.9328+102G>C	ENSP00000505288.1:n.9328+102G>C
ENST00000265104.4:c.9373+102G>C	ENSP00000265104.4:n.9373+102G>C
NM_001369.2:c.9373+102G>C	NP_001360.1:n.9373+102G>C
XM_005248262.2:c.9328+102G>C	XP_005248319.1:n.9328+102G>C
XM_005248262.3:c.9481+102G>C	XP_005248319.2:n.9481+102G>C
XM_017009177.1:c.9481+102G>C	XP_016864666.1:n.9481+102G>C
XM_017009178.1:c.8386+102G>C	XP_016864667.1:n.8386+102G>C
XM_017009179.2:c.8386+102G>C	XP_016864668.1:n.8386+102G>C
XM_017009180.1:c.9481+102G>C	XP_016864669.1:n.9481+102G>C
XM_017009181.1:c.9481+102G>C	XP_016864670.1:n.9481+102G>C
XM_017009182.1:c.9481+102G>C	XP_016864671.1:n.9481+102G>C
XM_017009183.1:c.9481+102G>C	XP_016864672.1:n.9481+102G>C
XM_017009185.1:c.4570+102G>C	XP_016864674.1:n.4570+102G>C
XM_017009186.1:c.4123+102G>C	XP_016864675.1:n.4123+102G>C
XM_017009188.1:c.3460+102G>C	XP_016864677.1:n.3460+102G>C
XM_024454388.1:c.8386+102G>C	XP_024310156.1:n.8386+102G>C
XM_024454389.1:c.7975+102G>C	XP_024310157.1:n.7975+102G>C
NM_001369.3:c.9373+102G>C MANE Select	NP_001360.1:n.9373+102G>C