Canonical Allele Identifier: CA515254924

Gene: SHANK3

Linked Data

• dbSNP Id: rs1217808315
• gnomAD v2: 22-51136020-C-T
• gnomAD v4: 22-50697592-C-T
• MyVariant Identifiers: chr22:g.51136020C>T (hg19) ; chr22:g.50697592C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697592C>T , CM000684.2:g.50697592C>T	GRCh38
NC_000022.10:g.51136020C>T , CM000684.1:g.51136020C>T	GRCh37
NC_000022.9:g.49482886C>T	NCBI36
NG_008607.2:g.28238C>T
NG_070230.1:g.33457C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262795.7:c.976C>T	ENSP00000489147.2:p.Pro326Ser
ENST00000414786.7:n.1560C>T
ENST00000445220.7:c.28C>T	ENSP00000489407.2:p.Pro10Ser
ENST00000673971.2:c.1333C>T	ENSP00000501192.1:p.Pro445Ser
ENST00000445220.6:c.28C>T	ENSP00000489407.2:p.Pro10Ser
ENST00000262795.6:c.976C>T	ENSP00000489147.2:p.Pro326Ser
ENST00000673971.1:c.1333C>T	ENSP00000501192.1:p.Pro445Ser
ENST00000673995.1:c.29C>T
ENST00000262795.5:c.1372C>T	ENSP00000489147.1:p.Pro458Ser
ENST00000414786.6:n.1560C>T
ENST00000445220.5:c.1354C>T	ENSP00000489407.1:p.Pro452Ser