Canonical Allele Identifier: CA359188524

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13692007-C-A
• COSMIC: COSM4678453
• MyVariant Identifiers: chr5:g.13692116C>A (hg19) ; chr5:g.13692007C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692007C>A , CM000667.2:g.13692007C>A	GRCh38
NC_000005.9:g.13692116C>A , CM000667.1:g.13692116C>A	GRCh37
NC_000005.8:g.13745116C>A	NCBI36
NG_013081.1:g.257474G>T
NG_013081.2:g.257474G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1185G>T
ENST00000265104.5:c.13852G>T MANE Select	ENSP00000265104.4:p.Ala4618Ser
ENST00000681290.1:c.13807G>T	ENSP00000505288.1:p.Ala4603Ser
ENST00000265104.4:c.13852G>T	ENSP00000265104.4:p.Ala4618Ser
NM_001369.2:c.13852G>T	NP_001360.1:p.Ala4618Ser
XM_005248262.2:c.13807G>T	XP_005248319.1:p.Ala4603Ser
XM_005248262.3:c.13960G>T	XP_005248319.2:p.Ala4654Ser
XM_017009177.1:c.13540G>T	XP_016864666.1:p.Ala4514Ser
XM_017009178.1:c.12865G>T	XP_016864667.1:p.Ala4289Ser
XM_017009179.2:c.12865G>T	XP_016864668.1:p.Ala4289Ser
XM_017009185.1:c.9049G>T	XP_016864674.1:p.Ala3017Ser
XM_017009186.1:c.8602G>T	XP_016864675.1:p.Ala2868Ser
XM_017009188.1:c.7939G>T	XP_016864677.1:p.Ala2647Ser
XM_024454388.1:c.12865G>T	XP_024310156.1:p.Ala4289Ser
XM_024454389.1:c.12454G>T	XP_024310157.1:p.Ala4152Ser
NM_001369.3:c.13852G>T MANE Select	NP_001360.1:p.Ala4618Ser