Canonical Allele Identifier: CA352454365

Gene: SLC6A20

Linked Data

• MyVariant Identifiers: chr3:g.45814107C>G (hg19) ; chr3:g.45772615C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.45772615C>G , CM000665.2:g.45772615C>G	GRCh38
NC_000003.11:g.45814107C>G , CM000665.1:g.45814107C>G	GRCh37
NC_000003.10:g.45789111C>G	NCBI36
NG_023204.1:g.28929G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000703343.1:c.583G>C	ENSP00000515266.1:p.Val195Leu
ENST00000358525.9:c.583G>C MANE Select	ENSP00000346298.4:p.Val195Leu
ENST00000353278.8:c.583-1157G>C	ENSP00000296133.5:n.583-1157G>C
ENST00000358525.8:c.583G>C	ENSP00000346298.4:p.Val195Leu
ENST00000413781.1:c.442G>C	ENSP00000395506.1:p.Val148Leu
ENST00000456124.6:c.583G>C	ENSP00000404310.2:p.Val195Leu
NM_020208.3:c.583G>C	NP_064593.1:p.Val195Leu
NM_022405.3:c.583-1157G>C	NP_071800.1:n.583-1157G>C
XM_005265236.2:c.583G>C	XP_005265293.1:p.Val195Leu
XM_011533847.1:c.286G>C	XP_011532149.1:p.Val96Leu
XM_011533848.1:c.583G>C	XP_011532150.1:p.Val195Leu
XM_011533847.2:c.286G>C	XP_011532149.1:p.Val96Leu
XM_011533848.2:c.583G>C	XP_011532150.1:p.Val195Leu
NM_020208.4:c.583G>C MANE Select	NP_064593.1:p.Val195Leu
NM_022405.4:c.583-1157G>C	NP_071800.1:n.583-1157G>C
NM_001385683.1:c.583G>C	NP_001372612.1:p.Val195Leu