Canonical Allele Identifier: CA515254865

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50697572-C-T
• MyVariant Identifiers: chr22:g.51136000C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697572C>T , CM000684.2:g.50697572C>T	GRCh38
NC_000022.10:g.51136000C>T , CM000684.1:g.51136000C>T	GRCh37
NC_000022.9:g.49482866C>T	NCBI36
NG_008607.2:g.28218C>T
NG_070230.1:g.33437C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.956C>T	ENSP00000489147.2:p.Pro319Leu
ENST00000414786.7:n.1540C>T
ENST00000445220.7:c.8C>T	ENSP00000489407.2:p.Pro3Leu
ENST00000673971.2:c.1313C>T	ENSP00000501192.1:p.Pro438Leu
ENST00000445220.6:c.8C>T	ENSP00000489407.2:p.Pro3Leu
ENST00000262795.6:c.956C>T	ENSP00000489147.2:p.Pro319Leu
ENST00000673971.1:c.1313C>T	ENSP00000501192.1:p.Pro438Leu
ENST00000673995.1:c.9C>T
ENST00000262795.5:c.1352C>T	ENSP00000489147.1:p.Pro451Leu
ENST00000414786.6:n.1540C>T
ENST00000445220.5:c.1334C>T	ENSP00000489407.1:p.Pro445Leu