Canonical Allele Identifier: CA359196926

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13708311C>A (hg19) ; chr5:g.13708202C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13708202C>A , CM000667.2:g.13708202C>A	GRCh38
NC_000005.9:g.13708311C>A , CM000667.1:g.13708311C>A	GRCh37
NC_000005.8:g.13761311C>A	NCBI36
NG_013081.1:g.241279G>T
NG_013081.2:g.241279G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.592G>T
ENST00000265104.5:c.13259G>T MANE Select	ENSP00000265104.4:p.Gly4420Val
ENST00000681290.1:c.13214G>T	ENSP00000505288.1:p.Gly4405Val
ENST00000265104.4:c.13259G>T	ENSP00000265104.4:p.Gly4420Val
NM_001369.2:c.13259G>T	NP_001360.1:p.Gly4420Val
XM_005248262.2:c.13214G>T	XP_005248319.1:p.Gly4405Val
XM_005248262.3:c.13367G>T	XP_005248319.2:p.Gly4456Val
XM_017009177.1:c.12947G>T	XP_016864666.1:p.Gly4316Val
XM_017009178.1:c.12272G>T	XP_016864667.1:p.Gly4091Val
XM_017009179.2:c.12272G>T	XP_016864668.1:p.Gly4091Val
XM_017009185.1:c.8456G>T	XP_016864674.1:p.Gly2819Val
XM_017009186.1:c.8009G>T	XP_016864675.1:p.Gly2670Val
XM_017009188.1:c.7346G>T	XP_016864677.1:p.Gly2449Val
XM_024454388.1:c.12272G>T	XP_024310156.1:p.Gly4091Val
XM_024454389.1:c.11861G>T	XP_024310157.1:p.Gly3954Val
NM_001369.3:c.13259G>T MANE Select	NP_001360.1:p.Gly4420Val