Canonical Allele Identifier: CA433447619

Gene: SLC6A20

Linked Data

• dbSNP Id: rs1252033848
• gnomAD v3: 3-45772508-G-A
• gnomAD v4: 3-45772508-G-A
• MyVariant Identifiers: chr3:g.45814000G>A (hg19) ; chr3:g.45772508G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.45772508G>A , CM000665.2:g.45772508G>A	GRCh38
NC_000003.11:g.45814000G>A , CM000665.1:g.45814000G>A	GRCh37
NC_000003.10:g.45789004G>A	NCBI36
NG_023204.1:g.29036C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703343.1:c.690C>T	ENSP00000515266.1:p.Pro230=
ENST00000358525.9:c.690C>T MANE Select	ENSP00000346298.4:p.Pro230=
ENST00000353278.8:c.583-1050C>T	ENSP00000296133.5:n.583-1050C>T
ENST00000358525.8:c.690C>T	ENSP00000346298.4:p.Pro230=
ENST00000413781.1:c.549C>T	ENSP00000395506.1:p.Pro183=
ENST00000456124.6:c.690C>T	ENSP00000404310.2:p.Pro230=
NM_020208.3:c.690C>T	NP_064593.1:p.Pro230=
NM_022405.3:c.583-1050C>T	NP_071800.1:n.583-1050C>T
XM_005265236.2:c.690C>T	XP_005265293.1:p.Pro230=
XM_011533847.1:c.393C>T	XP_011532149.1:p.Pro131=
XM_011533848.1:c.690C>T	XP_011532150.1:p.Pro230=
XM_011533847.2:c.393C>T	XP_011532149.1:p.Pro131=
XM_011533848.2:c.690C>T	XP_011532150.1:p.Pro230=
NM_020208.4:c.690C>T MANE Select	NP_064593.1:p.Pro230=
NM_022405.4:c.583-1050C>T	NP_071800.1:n.583-1050C>T
NM_001385683.1:c.690C>T	NP_001372612.1:p.Pro230=