Canonical Allele Identifier: CA227423222

Gene: DYNC2H1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.103358356C>T , CM000673.2:g.103358356C>T	GRCh38
NC_000011.9:g.103229084C>T , CM000673.1:g.103229084C>T	GRCh37
NC_000011.8:g.102734294C>T	NCBI36
NG_016423.1:g.253925C>T
NG_016423.2:g.253926C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001377.3:c.12153C>T MANE Select	NP_001368.2:p.Asn4051=
ENST00000375735.7:c.12153C>T MANE Select	ENSP00000364887.2:p.Asn4051=
NM_001080463.2:c.12174C>T MANE Plus Clinical	NP_001073932.1:p.Asn4058=
ENST00000650373.2:c.12174C>T MANE Plus Clinical	ENSP00000497174.1:p.Asn4058=
NM_001080463.1:c.12174C>T	NP_001073932.1:p.Asn4058=
NM_001377.2:c.12153C>T	NP_001368.2:p.Asn4051=
ENST00000334267.11:c.2206-77587C>T	ENSP00000334021.7:n.2206-77587C>T
ENST00000375735.6:c.12153C>T	ENSP00000364887.2:p.Asn4051=
ENST00000398093.7:c.12174C>T	ENSP00000381167.3:p.Asn4058=
ENST00000528670.5:c.1336C>T	ENSP00000433451.1:n.1336C>T
ENST00000533197.1:c.114C>T	ENSP00000436736.1:p.Asn38=
ENST00000650373.1:c.12174C>T	ENSP00000497174.1:p.Asn4058=
XM_006718903.2:c.12132C>T	XP_006718966.1:p.Asn4044=
XM_017018291.1:c.12153C>T	XP_016873780.1:p.Asn4051=
XM_017018292.1:c.11535C>T	XP_016873781.1:p.Asn3845=