Canonical Allele Identifier: CA381377929

Gene: PACS1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66239147G>C , CM000673.2:g.66239147G>C	GRCh38
NC_000011.9:g.66006618G>C , CM000673.1:g.66006618G>C	GRCh37
NC_000011.8:g.65763194G>C	NCBI36
NG_033900.1:g.173795G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_018026.4:c.2299G>C MANE Select	NP_060496.2:p.Gly767Arg
ENST00000320580.9:c.2299G>C MANE Select	ENSP00000316454.4:p.Gly767Arg
NM_018026.3:c.2299G>C	NP_060496.2:p.Gly767Arg
ENST00000320580.8:c.2299G>C	ENSP00000316454.4:p.Gly767Arg
ENST00000525798.1:n.337G>C
ENST00000529757.5:c.907G>C	ENSP00000432858.1:p.Gly303Arg
ENST00000676419.1:n.336G>C
XM_011545162.1:c.1978G>C	XP_011543464.1:p.Gly660Arg
XM_011545163.1:c.1969G>C	XP_011543465.1:p.Gly657Arg
XM_011545164.1:c.1960G>C	XP_011543466.1:p.Gly654Arg
XM_011545164.2:c.1960G>C	XP_011543466.1:p.Gly654Arg