Canonical Allele Identifier: CA2612829940

Gene: SLC6A5

Linked Data

• gnomAD v4: 11-20638438-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.20638438G>T , CM000673.2:g.20638438G>T	GRCh38
NC_000011.9:g.20659984G>T , CM000673.1:g.20659984G>T	GRCh37
NC_000011.8:g.20616560G>T	NCBI36
NG_013086.1:g.44039G>T
NG_013086.2:g.44039G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525748.6:c.1870-21G>T MANE Select	ENSP00000434364.2:n.1870-21G>T
ENST00000298923.11:c.*1167-21G>T	ENSP00000298923.7:n.*1167-21G>T
ENST00000525748.5:c.1870-21G>T	ENSP00000434364.1:n.1870-21G>T
ENST00000528440.1:n.401-21G>T
NM_004211.3:c.1870-21G>T	NP_004202.2:n.1870-21G>T
XM_005253225.1:c.1168-21G>T	XP_005253282.1:n.1168-21G>T
XM_011520473.1:c.1870-21G>T	XP_011518775.1:n.1870-21G>T
NM_001318369.1:c.1168-21G>T	NP_001305298.1:n.1168-21G>T
NM_004211.4:c.1870-21G>T	NP_004202.3:n.1870-21G>T
XM_017018544.2:c.994-21G>T	XP_016874033.1:n.994-21G>T
XM_017018545.2:c.829-21G>T	XP_016874034.1:n.829-21G>T
NM_001318369.2:c.1168-21G>T	NP_001305298.1:n.1168-21G>T
NM_004211.5:c.1870-21G>T MANE Select	NP_004202.4:n.1870-21G>T