Canonical Allele Identifier: CA381342581

Gene: PACS1

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66211217G>C , CM000673.2:g.66211217G>C	GRCh38
NC_000011.9:g.65978688G>C , CM000673.1:g.65978688G>C	GRCh37
NC_000011.8:g.65735264G>C	NCBI36
NG_033900.1:g.145865G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320580.9:c.618G>C MANE Select	ENSP00000316454.4:p.Leu206Phe
ENST00000320580.8:c.618G>C	ENSP00000316454.4:p.Leu206Phe
ENST00000527224.1:n.742G>C
ENST00000527380.1:c.324G>C	ENSP00000432639.1:p.Leu108Phe
ENST00000533756.5:c.309G>C	ENSP00000437150.1:p.Leu103Phe
NM_018026.3:c.618G>C	NP_060496.2:p.Leu206Phe
XM_011545162.1:c.297G>C	XP_011543464.1:p.Leu99Phe
XM_011545163.1:c.288G>C	XP_011543465.1:p.Leu96Phe
XM_011545164.1:c.279G>C	XP_011543466.1:p.Leu93Phe
XM_011545164.2:c.279G>C	XP_011543466.1:p.Leu93Phe
XR_001747924.1:n.829G>C
NM_018026.4:c.618G>C MANE Select	NP_060496.2:p.Leu206Phe