Canonical Allele Identifier: CA381342426

Gene: PACS1

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66211207G>A , CM000673.2:g.66211207G>A	GRCh38
NC_000011.9:g.65978678G>A , CM000673.1:g.65978678G>A	GRCh37
NC_000011.8:g.65735254G>A	NCBI36
NG_033900.1:g.145855G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320580.9:c.608G>A MANE Select	ENSP00000316454.4:p.Arg203Gln
ENST00000320580.8:c.608G>A	ENSP00000316454.4:p.Arg203Gln
ENST00000527224.1:n.732G>A
ENST00000527380.1:c.314G>A	ENSP00000432639.1:p.Arg105Gln
ENST00000533756.5:c.299G>A	ENSP00000437150.1:p.Arg100Gln
NM_018026.3:c.608G>A	NP_060496.2:p.Arg203Gln
XM_011545162.1:c.287G>A	XP_011543464.1:p.Arg96Gln
XM_011545163.1:c.278G>A	XP_011543465.1:p.Arg93Gln
XM_011545164.1:c.269G>A	XP_011543466.1:p.Arg90Gln
XM_011545164.2:c.269G>A	XP_011543466.1:p.Arg90Gln
XR_001747924.1:n.819G>A
NM_018026.4:c.608G>A MANE Select	NP_060496.2:p.Arg203Gln