Canonical Allele Identifier: CA366662037

Gene: AP5Z1

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.4786384G>C , CM000669.2:g.4786384G>C	GRCh38
NC_000007.13:g.4826015G>C , CM000669.1:g.4826015G>C	GRCh37
NC_000007.12:g.4792541G>C	NCBI36
NG_028111.1:g.15754G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477680.6:n.1025G>C
ENST00000496303.6:n.1095G>C
ENST00000647628.1:n.758G>C
ENST00000647984.1:c.*612G>C	ENSP00000497794.1:n.*612G>C
ENST00000648765.1:n.590G>C
ENST00000648925.1:c.1267G>C	ENSP00000496830.1:p.Gly423Arg
ENST00000649063.2:c.1267G>C MANE Select	ENSP00000497815.1:p.Gly423Arg
ENST00000649315.1:c.726G>C
ENST00000649419.1:n.1108G>C
ENST00000650310.1:c.1267G>C	ENSP00000497395.1:p.Gly423Arg
ENST00000650581.1:c.69G>C
ENST00000348624.4:c.1267G>C	ENSP00000297562.4:p.Gly423Arg
ENST00000477454.1:n.10G>C
ENST00000477680.5:n.1025G>C
ENST00000496303.5:n.1331G>C
NM_014855.2:c.1267G>C	NP_055670.1:p.Gly423Arg
XR_242109.1:n.1292G>C
NM_001364858.1:c.799G>C	NP_001351787.1:p.Gly267Arg
NM_014855.3:c.1267G>C MANE Select	NP_055670.1:p.Gly423Arg
NR_157345.1:n.1360G>C