Canonical Allele Identifier: CA513691143

Gene: ZDHHC8

Linked Data

• dbSNP Id: rs2050448936
• gnomAD v4: 22-20139521-G-C
• MyVariant Identifiers: chr22:g.20127044G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.20139521G>C , CM000684.2:g.20139521G>C	GRCh38
NC_000022.10:g.20127044G>C , CM000684.1:g.20127044G>C	GRCh37
NC_000022.9:g.18507044G>C	NCBI36
NG_021420.1:g.12681G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334554.12:c.270G>C MANE Select	ENSP00000334490.7:p.Leu90=
ENST00000320602.11:c.270G>C	ENSP00000317804.7:p.Leu90=
ENST00000334554.11:c.270G>C	ENSP00000334490.7:p.Leu90=
ENST00000405930.3:c.270G>C	ENSP00000384716.3:p.Leu90=
ENST00000436518.5:c.237G>C	ENSP00000412807.1:p.Leu79=
ENST00000468112.5:n.58-1096G>C
NM_001185024.1:c.270G>C	NP_001171953.1:p.Leu90=
NM_013373.3:c.270G>C	NP_037505.1:p.Leu90=
XM_006724239.2:c.270G>C	XP_006724302.1:p.Leu90=
NM_001185024.2:c.270G>C	NP_001171953.1:p.Leu90=
NM_013373.4:c.270G>C MANE Select	NP_037505.1:p.Leu90=