Canonical Allele Identifier: CA515254965

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50697606-G-T
• MyVariant Identifiers: chr22:g.51136034G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697606G>T , CM000684.2:g.50697606G>T	GRCh38
NC_000022.10:g.51136034G>T , CM000684.1:g.51136034G>T	GRCh37
NC_000022.9:g.49482900G>T	NCBI36
NG_008607.2:g.28252G>T
NG_070230.1:g.33471G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.990G>T	ENSP00000489147.2:p.Pro330=
ENST00000414786.7:n.1574G>T
ENST00000445220.7:c.42G>T	ENSP00000489407.2:p.Pro14=
ENST00000673971.2:c.1347G>T	ENSP00000501192.1:p.Pro449=
ENST00000445220.6:c.42G>T	ENSP00000489407.2:p.Pro14=
ENST00000262795.6:c.990G>T	ENSP00000489147.2:p.Pro330=
ENST00000673971.1:c.1347G>T	ENSP00000501192.1:p.Pro449=
ENST00000673995.1:c.43G>T
ENST00000262795.5:c.1386G>T	ENSP00000489147.1:p.Pro462=
ENST00000414786.6:n.1574G>T
ENST00000445220.5:c.1368G>T	ENSP00000489407.1:p.Pro456=