Canonical Allele Identifier: CA515261850

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50721332-G-C
• MyVariant Identifiers: chr22:g.51159760G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721332G>C , CM000684.2:g.50721332G>C	GRCh38
NC_000022.10:g.51159760G>C , CM000684.1:g.51159760G>C	GRCh37
NC_000022.9:g.49506626G>C	NCBI36
NG_008607.2:g.51978G>C
NG_070230.1:g.57116G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3100G>C	ENSP00000489147.2:p.Ala1034Pro
ENST00000414786.7:n.3684G>C
ENST00000445220.7:c.2152G>C	ENSP00000489407.2:p.Ala718Pro
ENST00000664402.2:c.1642G>C	ENSP00000499475.1:p.Ala548Pro
ENST00000673971.2:c.*2098G>C	ENSP00000501192.1:n.*2098G>C
ENST00000445220.6:c.2152G>C	ENSP00000489407.2:p.Ala718Pro
ENST00000262795.6:c.3100G>C	ENSP00000489147.2:p.Ala1034Pro
ENST00000664402.1:c.1642G>C	ENSP00000499475.1:p.Ala548Pro
ENST00000673971.1:c.*2098G>C	ENSP00000501192.1:n.*2098G>C
ENST00000262795.5:c.3496G>C	ENSP00000489147.1:p.Ala1166Pro
ENST00000414786.6:n.3684G>C
ENST00000445220.5:c.3478G>C	ENSP00000489407.1:p.Ala1160Pro