Canonical Allele Identifier: CA379917187

Gene: SLC6A5

Linked Data

• MyVariant Identifiers: chr11:g.20649538G>T (hg19) ; chr11:g.20627992G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.20627992G>T , CM000673.2:g.20627992G>T	GRCh38
NC_000011.9:g.20649538G>T , CM000673.1:g.20649538G>T	GRCh37
NC_000011.8:g.20606114G>T	NCBI36
NG_013086.1:g.33593G>T
NG_013086.2:g.33593G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525748.6:c.1408G>T MANE Select	ENSP00000434364.2:p.Ala470Ser
ENST00000298923.11:c.*705G>T	ENSP00000298923.7:n.*705G>T
ENST00000525748.5:c.1408G>T	ENSP00000434364.1:p.Ala470Ser
NM_004211.3:c.1408G>T	NP_004202.2:p.Ala470Ser
XM_005253225.1:c.706G>T	XP_005253282.1:p.Ala236Ser
XM_011520473.1:c.1408G>T	XP_011518775.1:p.Ala470Ser
NM_001318369.1:c.706G>T	NP_001305298.1:p.Ala236Ser
NM_004211.4:c.1408G>T	NP_004202.3:p.Ala470Ser
XM_017018544.2:c.532G>T	XP_016874033.1:p.Ala178Ser
XM_017018545.2:c.367G>T	XP_016874034.1:p.Ala123Ser
NM_001318369.2:c.706G>T	NP_001305298.1:p.Ala236Ser
NM_004211.5:c.1408G>T MANE Select	NP_004202.4:p.Ala470Ser