Canonical Allele Identifier: CA359204985

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13770907-C-T
• MyVariant Identifiers: chr5:g.13771016C>T (hg19) ; chr5:g.13770907C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13770907C>T , CM000667.2:g.13770907C>T	GRCh38
NC_000005.9:g.13771016C>T , CM000667.1:g.13771016C>T	GRCh37
NC_000005.8:g.13824016C>T	NCBI36
NG_013081.1:g.178574G>A
NG_013081.2:g.178574G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9447G>A MANE Select	ENSP00000265104.4:p.Met3149Ile
ENST00000681290.1:c.9402G>A	ENSP00000505288.1:p.Met3134Ile
ENST00000265104.4:c.9447G>A	ENSP00000265104.4:p.Met3149Ile
ENST00000504001.3:n.159G>A
NM_001369.2:c.9447G>A	NP_001360.1:p.Met3149Ile
XM_005248262.2:c.9402G>A	XP_005248319.1:p.Met3134Ile
XM_005248262.3:c.9555G>A	XP_005248319.2:p.Met3185Ile
XM_017009177.1:c.9555G>A	XP_016864666.1:p.Met3185Ile
XM_017009178.1:c.8460G>A	XP_016864667.1:p.Met2820Ile
XM_017009179.2:c.8460G>A	XP_016864668.1:p.Met2820Ile
XM_017009180.1:c.9555G>A	XP_016864669.1:p.Met3185Ile
XM_017009181.1:c.9555G>A	XP_016864670.1:p.Met3185Ile
XM_017009182.1:c.9555G>A	XP_016864671.1:p.Met3185Ile
XM_017009183.1:c.9555G>A	XP_016864672.1:p.Met3185Ile
XM_017009185.1:c.4644G>A	XP_016864674.1:p.Met1548Ile
XM_017009186.1:c.4197G>A	XP_016864675.1:p.Met1399Ile
XM_017009188.1:c.3534G>A	XP_016864677.1:p.Met1178Ile
XM_024454388.1:c.8460G>A	XP_024310156.1:p.Met2820Ile
XM_024454389.1:c.8049G>A	XP_024310157.1:p.Met2683Ile
NM_001369.3:c.9447G>A MANE Select	NP_001360.1:p.Met3149Ile