Canonical Allele Identifier: CA443248611

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13692114G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692005G>A , CM000667.2:g.13692005G>A	GRCh38
NC_000005.9:g.13692114G>A , CM000667.1:g.13692114G>A	GRCh37
NC_000005.8:g.13745114G>A	NCBI36
NG_013081.1:g.257476C>T
NG_013081.2:g.257476C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1187C>T
ENST00000265104.5:c.13854C>T MANE Select	ENSP00000265104.4:p.Ala4618=
ENST00000681290.1:c.13809C>T	ENSP00000505288.1:p.Ala4603=
ENST00000265104.4:c.13854C>T	ENSP00000265104.4:p.Ala4618=
NM_001369.2:c.13854C>T	NP_001360.1:p.Ala4618=
XM_005248262.2:c.13809C>T	XP_005248319.1:p.Ala4603=
XM_005248262.3:c.13962C>T	XP_005248319.2:p.Ala4654=
XM_017009177.1:c.13542C>T	XP_016864666.1:p.Ala4514=
XM_017009178.1:c.12867C>T	XP_016864667.1:p.Ala4289=
XM_017009179.2:c.12867C>T	XP_016864668.1:p.Ala4289=
XM_017009185.1:c.9051C>T	XP_016864674.1:p.Ala3017=
XM_017009186.1:c.8604C>T	XP_016864675.1:p.Ala2868=
XM_017009188.1:c.7941C>T	XP_016864677.1:p.Ala2647=
XM_024454388.1:c.12867C>T	XP_024310156.1:p.Ala4289=
XM_024454389.1:c.12456C>T	XP_024310157.1:p.Ala4152=
NM_001369.3:c.13854C>T MANE Select	NP_001360.1:p.Ala4618=