Canonical Allele Identifier: CA2351527

Gene: SLC6A20

Linked Data

• dbSNP Id: rs750345913
• ExAC: 3:45813984 CT / C
• gnomAD v2: 3-45813984-CT-C
• gnomAD v4: 3-45772492-CT-C
• MyVariant Identifiers: chr3:g.45813985del (hg19) ; chr3:g.45772493del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.45772494del , CM000665.2:g.45772494del	GRCh38
NC_000003.11:g.45813986del , CM000665.1:g.45813986del	GRCh37
NC_000003.10:g.45788990del	NCBI36
NG_023204.1:g.29051del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703343.1:c.693+12del	ENSP00000515266.1:n.693+12del
ENST00000358525.9:c.693+12del MANE Select	ENSP00000346298.4:n.693+12del
ENST00000353278.8:c.583-1035del	ENSP00000296133.5:n.583-1035del
ENST00000358525.8:c.693+12del	ENSP00000346298.4:n.693+12del
ENST00000413781.1:c.552+12del	ENSP00000395506.1:n.552+12del
ENST00000456124.6:c.693+12del	ENSP00000404310.2:n.693+12del
NM_020208.3:c.693+12del	NP_064593.1:n.693+12del
NM_022405.3:c.583-1035del	NP_071800.1:n.583-1035del
XM_005265236.2:c.693+12del	XP_005265293.1:n.693+12del
XM_011533847.1:c.396+12del	XP_011532149.1:n.396+12del
XM_011533848.1:c.693+12del	XP_011532150.1:n.693+12del
XM_011533847.2:c.396+12del	XP_011532149.1:n.396+12del
XM_011533848.2:c.693+12del	XP_011532150.1:n.693+12del
NM_020208.4:c.693+12del MANE Select	NP_064593.1:n.693+12del
NM_022405.4:c.583-1035del	NP_071800.1:n.583-1035del
NM_001385683.1:c.693+12del	NP_001372612.1:n.693+12del