Canonical Allele Identifier: CA6254474

Gene: DYNC2H1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.103209957T>C , CM000673.2:g.103209957T>C	GRCh38
NC_000011.9:g.103080686T>C , CM000673.1:g.103080686T>C	GRCh37
NC_000011.8:g.102585896T>C	NCBI36
NG_016423.1:g.105527T>C
NG_016423.2:g.105527T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001377.3:c.8536T>C MANE Select	NP_001368.2:p.Ser2846Pro
ENST00000375735.7:c.8536T>C MANE Select	ENSP00000364887.2:p.Ser2846Pro
NM_001080463.2:c.8536T>C MANE Plus Clinical	NP_001073932.1:p.Ser2846Pro
ENST00000650373.2:c.8536T>C MANE Plus Clinical	ENSP00000497174.1:p.Ser2846Pro
NM_001080463.1:c.8536T>C	NP_001073932.1:p.Ser2846Pro
NM_001377.2:c.8536T>C	NP_001368.2:p.Ser2846Pro
ENST00000334267.11:c.2205+75538T>C	ENSP00000334021.7:n.2205+75538T>C
ENST00000375735.6:c.8536T>C	ENSP00000364887.2:p.Ser2846Pro
ENST00000398093.7:c.8536T>C	ENSP00000381167.3:p.Ser2846Pro
ENST00000533027.1:n.136T>C
ENST00000650373.1:c.8536T>C	ENSP00000497174.1:p.Ser2846Pro
XM_006718903.2:c.8515T>C	XP_006718966.1:p.Ser2839Pro
XM_017018291.1:c.8536T>C	XP_016873780.1:p.Ser2846Pro
XM_017018292.1:c.7918T>C	XP_016873781.1:p.Ser2640Pro