Canonical Allele Identifier: CA359188598

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13692043-C-A
• MyVariant Identifiers: chr5:g.13692152C>A (hg19) ; chr5:g.13692043C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692043C>A , CM000667.2:g.13692043C>A	GRCh38
NC_000005.9:g.13692152C>A , CM000667.1:g.13692152C>A	GRCh37
NC_000005.8:g.13745152C>A	NCBI36
NG_013081.1:g.257438G>T
NG_013081.2:g.257438G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1149G>T
ENST00000265104.5:c.13816G>T MANE Select	ENSP00000265104.4:p.Ala4606Ser
ENST00000681290.1:c.13771G>T	ENSP00000505288.1:p.Ala4591Ser
ENST00000265104.4:c.13816G>T	ENSP00000265104.4:p.Ala4606Ser
NM_001369.2:c.13816G>T	NP_001360.1:p.Ala4606Ser
XM_005248262.2:c.13771G>T	XP_005248319.1:p.Ala4591Ser
XM_005248262.3:c.13924G>T	XP_005248319.2:p.Ala4642Ser
XM_017009177.1:c.13504G>T	XP_016864666.1:p.Ala4502Ser
XM_017009178.1:c.12829G>T	XP_016864667.1:p.Ala4277Ser
XM_017009179.2:c.12829G>T	XP_016864668.1:p.Ala4277Ser
XM_017009185.1:c.9013G>T	XP_016864674.1:p.Ala3005Ser
XM_017009186.1:c.8566G>T	XP_016864675.1:p.Ala2856Ser
XM_017009188.1:c.7903G>T	XP_016864677.1:p.Ala2635Ser
XM_024454388.1:c.12829G>T	XP_024310156.1:p.Ala4277Ser
XM_024454389.1:c.12418G>T	XP_024310157.1:p.Ala4140Ser
NM_001369.3:c.13816G>T MANE Select	NP_001360.1:p.Ala4606Ser