Canonical Allele Identifier: CA515261066

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50721067-G-T
• MyVariant Identifiers: chr22:g.51159495G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721067G>T , CM000684.2:g.50721067G>T	GRCh38
NC_000022.10:g.51159495G>T , CM000684.1:g.51159495G>T	GRCh37
NC_000022.9:g.49506361G>T	NCBI36
NG_008607.2:g.51713G>T
NG_070230.1:g.56851G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2835G>T	ENSP00000489147.2:p.Lys945Asn
ENST00000414786.7:n.3419G>T
ENST00000445220.7:c.1887G>T	ENSP00000489407.2:p.Lys629Asn
ENST00000664402.2:c.1377G>T	ENSP00000499475.1:p.Lys459Asn
ENST00000673971.2:c.*1833G>T	ENSP00000501192.1:n.*1833G>T
ENST00000445220.6:c.1887G>T	ENSP00000489407.2:p.Lys629Asn
ENST00000262795.6:c.2835G>T	ENSP00000489147.2:p.Lys945Asn
ENST00000664402.1:c.1377G>T	ENSP00000499475.1:p.Lys459Asn
ENST00000673971.1:c.*1833G>T	ENSP00000501192.1:n.*1833G>T
ENST00000262795.5:c.3231G>T	ENSP00000489147.1:p.Lys1077Asn
ENST00000414786.6:n.3419G>T
ENST00000445220.5:c.3213G>T	ENSP00000489407.1:p.Lys1071Asn