Canonical Allele Identifier: CA352454315

Gene: SLC6A20

Linked Data

• MyVariant Identifiers: chr3:g.45814097A>G (hg19) ; chr3:g.45772605A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.45772605A>G , CM000665.2:g.45772605A>G	GRCh38
NC_000003.11:g.45814097A>G , CM000665.1:g.45814097A>G	GRCh37
NC_000003.10:g.45789101A>G	NCBI36
NG_023204.1:g.28939T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000703343.1:c.593T>C	ENSP00000515266.1:p.Phe198Ser
ENST00000358525.9:c.593T>C MANE Select	ENSP00000346298.4:p.Phe198Ser
ENST00000353278.8:c.583-1147T>C	ENSP00000296133.5:n.583-1147T>C
ENST00000358525.8:c.593T>C	ENSP00000346298.4:p.Phe198Ser
ENST00000413781.1:c.452T>C	ENSP00000395506.1:p.Phe151Ser
ENST00000456124.6:c.593T>C	ENSP00000404310.2:p.Phe198Ser
NM_020208.3:c.593T>C	NP_064593.1:p.Phe198Ser
NM_022405.3:c.583-1147T>C	NP_071800.1:n.583-1147T>C
XM_005265236.2:c.593T>C	XP_005265293.1:p.Phe198Ser
XM_011533847.1:c.296T>C	XP_011532149.1:p.Phe99Ser
XM_011533848.1:c.593T>C	XP_011532150.1:p.Phe198Ser
XM_011533847.2:c.296T>C	XP_011532149.1:p.Phe99Ser
XM_011533848.2:c.593T>C	XP_011532150.1:p.Phe198Ser
NM_020208.4:c.593T>C MANE Select	NP_064593.1:p.Phe198Ser
NM_022405.4:c.583-1147T>C	NP_071800.1:n.583-1147T>C
NM_001385683.1:c.593T>C	NP_001372612.1:p.Phe198Ser