Canonical Allele Identifier: CA6255545

Gene: DYNC2H1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.103435985C>T , CM000673.2:g.103435985C>T	GRCh38
NC_000011.9:g.103306713C>T , CM000673.1:g.103306713C>T	GRCh37
NC_000011.8:g.102811923C>T	NCBI36
NG_016423.1:g.331554C>T
NG_016423.2:g.331555C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001377.3:c.12409C>T MANE Select	NP_001368.2:p.Pro4137Ser
ENST00000375735.7:c.12409C>T MANE Select	ENSP00000364887.2:p.Pro4137Ser
NM_001080463.2:c.12430C>T MANE Plus Clinical	NP_001073932.1:p.Pro4144Ser
ENST00000650373.2:c.12430C>T MANE Plus Clinical	ENSP00000497174.1:p.Pro4144Ser
NM_001080463.1:c.12430C>T	NP_001073932.1:p.Pro4144Ser
NM_001377.2:c.12409C>T	NP_001368.2:p.Pro4137Ser
ENST00000334267.11:c.2248C>T	ENSP00000334021.7:p.Pro750Ser
ENST00000375735.6:c.12409C>T	ENSP00000364887.2:p.Pro4137Ser
ENST00000398093.7:c.12430C>T	ENSP00000381167.3:p.Pro4144Ser
ENST00000528670.5:c.1592C>T	ENSP00000433451.1:n.1592C>T
ENST00000533197.1:c.160C>T	ENSP00000436736.1:p.Pro54Ser
ENST00000650373.1:c.12430C>T	ENSP00000497174.1:p.Pro4144Ser
XM_006718903.2:c.12388C>T	XP_006718966.1:p.Pro4130Ser
XM_017018291.1:c.12199C>T	XP_016873780.1:p.Pro4067Ser
XM_017018292.1:c.11791C>T	XP_016873781.1:p.Pro3931Ser