Canonical Allele Identifier: CA3202110

Gene: DNAH5

Linked Data

• dbSNP Id: rs764032682
• ExAC: 5:13752431 G / T
• gnomAD v2: 5-13752431-G-T
• gnomAD v4: 5-13752322-G-T
• MyVariant Identifiers: chr5:g.13752431G>T (hg19) ; chr5:g.13752322G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13752322G>T , CM000667.2:g.13752322G>T	GRCh38
NC_000005.9:g.13752431G>T , CM000667.1:g.13752431G>T	GRCh37
NC_000005.8:g.13805431G>T	NCBI36
NG_013081.1:g.197159C>A
NG_013081.2:g.197159C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10873-33C>A MANE Select	ENSP00000265104.4:n.10873-33C>A
ENST00000681290.1:c.10828-33C>A	ENSP00000505288.1:n.10828-33C>A
ENST00000265104.4:c.10873-33C>A	ENSP00000265104.4:n.10873-33C>A
NM_001369.2:c.10873-33C>A	NP_001360.1:n.10873-33C>A
XM_005248262.2:c.10828-33C>A	XP_005248319.1:n.10828-33C>A
XM_005248262.3:c.10981-33C>A	XP_005248319.2:n.10981-33C>A
XM_017009177.1:c.10981-33C>A	XP_016864666.1:n.10981-33C>A
XM_017009178.1:c.9886-33C>A	XP_016864667.1:n.9886-33C>A
XM_017009179.2:c.9886-33C>A	XP_016864668.1:n.9886-33C>A
XM_017009180.1:c.10981-33C>A	XP_016864669.1:n.10981-33C>A
XM_017009181.1:c.10981-33C>A	XP_016864670.1:n.10981-33C>A
XM_017009182.1:c.10981-33C>A	XP_016864671.1:n.10981-33C>A
XM_017009185.1:c.6070-33C>A	XP_016864674.1:n.6070-33C>A
XM_017009186.1:c.5623-33C>A	XP_016864675.1:n.5623-33C>A
XM_017009188.1:c.4960-33C>A	XP_016864677.1:n.4960-33C>A
XM_024454388.1:c.9886-33C>A	XP_024310156.1:n.9886-33C>A
XM_024454389.1:c.9475-33C>A	XP_024310157.1:n.9475-33C>A
NM_001369.3:c.10873-33C>A MANE Select	NP_001360.1:n.10873-33C>A