Canonical Allele Identifier: CA515255109

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50697657-G-C
• MyVariant Identifiers: chr22:g.51136085G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697657G>C , CM000684.2:g.50697657G>C	GRCh38
NC_000022.10:g.51136085G>C , CM000684.1:g.51136085G>C	GRCh37
NC_000022.9:g.49482951G>C	NCBI36
NG_008607.2:g.28303G>C
NG_070230.1:g.33522G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.1041G>C	ENSP00000489147.2:p.Lys347Asn
ENST00000414786.7:n.1625G>C
ENST00000445220.7:c.93G>C	ENSP00000489407.2:p.Lys31Asn
ENST00000673971.2:c.1398G>C	ENSP00000501192.1:p.Lys466Asn
ENST00000445220.6:c.93G>C	ENSP00000489407.2:p.Lys31Asn
ENST00000262795.6:c.1041G>C	ENSP00000489147.2:p.Lys347Asn
ENST00000673971.1:c.1398G>C	ENSP00000501192.1:p.Lys466Asn
ENST00000673995.1:c.94G>C
ENST00000262795.5:c.1437G>C	ENSP00000489147.1:p.Lys479Asn
ENST00000414786.6:n.1625G>C
ENST00000445220.5:c.1419G>C	ENSP00000489407.1:p.Lys473Asn