Canonical Allele Identifier: CA2612829930

Gene: SLC6A5

Linked Data

• gnomAD v4: 11-20638424-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.20638424C>A , CM000673.2:g.20638424C>A	GRCh38
NC_000011.9:g.20659970C>A , CM000673.1:g.20659970C>A	GRCh37
NC_000011.8:g.20616546C>A	NCBI36
NG_013086.1:g.44025C>A
NG_013086.2:g.44025C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525748.6:c.1870-35C>A MANE Select	ENSP00000434364.2:n.1870-35C>A
ENST00000298923.11:c.*1167-35C>A	ENSP00000298923.7:n.*1167-35C>A
ENST00000525748.5:c.1870-35C>A	ENSP00000434364.1:n.1870-35C>A
ENST00000528440.1:n.401-35C>A
NM_004211.3:c.1870-35C>A	NP_004202.2:n.1870-35C>A
XM_005253225.1:c.1168-35C>A	XP_005253282.1:n.1168-35C>A
XM_011520473.1:c.1870-35C>A	XP_011518775.1:n.1870-35C>A
NM_001318369.1:c.1168-35C>A	NP_001305298.1:n.1168-35C>A
NM_004211.4:c.1870-35C>A	NP_004202.3:n.1870-35C>A
XM_017018544.2:c.994-35C>A	XP_016874033.1:n.994-35C>A
XM_017018545.2:c.829-35C>A	XP_016874034.1:n.829-35C>A
NM_001318369.2:c.1168-35C>A	NP_001305298.1:n.1168-35C>A
NM_004211.5:c.1870-35C>A MANE Select	NP_004202.4:n.1870-35C>A