Canonical Allele Identifier: CA381342447

Gene: PACS1

Linked Data

• MyVariant Identifiers: chr11:g.65978678G>T (hg19) ; chr11:g.66211207G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320580.9:c.608G>T MANE Select	ENSP00000316454.4:p.Arg203Leu
ENST00000320580.8:c.608G>T	ENSP00000316454.4:p.Arg203Leu
ENST00000527224.1:n.732G>T
ENST00000527380.1:c.314G>T	ENSP00000432639.1:p.Arg105Leu
ENST00000533756.5:c.299G>T	ENSP00000437150.1:p.Arg100Leu
NM_018026.3:c.608G>T	NP_060496.2:p.Arg203Leu
XM_011545162.1:c.287G>T	XP_011543464.1:p.Arg96Leu
XM_011545163.1:c.278G>T	XP_011543465.1:p.Arg93Leu
XM_011545164.1:c.269G>T	XP_011543466.1:p.Arg90Leu
XM_011545164.2:c.269G>T	XP_011543466.1:p.Arg90Leu
XR_001747924.1:n.819G>T
NM_018026.4:c.608G>T MANE Select	NP_060496.2:p.Arg203Leu