Canonical Allele Identifier: CA515262176

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50721370-G-T
• MyVariant Identifiers: chr22:g.51159798G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721370G>T , CM000684.2:g.50721370G>T	GRCh38
NC_000022.10:g.51159798G>T , CM000684.1:g.51159798G>T	GRCh37
NC_000022.9:g.49506664G>T	NCBI36
NG_008607.2:g.52016G>T
NG_070230.1:g.57154G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3138G>T	ENSP00000489147.2:p.Lys1046Asn
ENST00000414786.7:n.3722G>T
ENST00000445220.7:c.2190G>T	ENSP00000489407.2:p.Lys730Asn
ENST00000664402.2:c.1680G>T	ENSP00000499475.1:p.Lys560Asn
ENST00000673971.2:c.*2136G>T	ENSP00000501192.1:n.*2136G>T
ENST00000445220.6:c.2190G>T	ENSP00000489407.2:p.Lys730Asn
ENST00000262795.6:c.3138G>T	ENSP00000489147.2:p.Lys1046Asn
ENST00000664402.1:c.1680G>T	ENSP00000499475.1:p.Lys560Asn
ENST00000673971.1:c.*2136G>T	ENSP00000501192.1:n.*2136G>T
ENST00000262795.5:c.3534G>T	ENSP00000489147.1:p.Lys1178Asn
ENST00000414786.6:n.3722G>T
ENST00000445220.5:c.3516G>T	ENSP00000489407.1:p.Lys1172Asn