Canonical Allele Identifier: CA2592766964

Gene: SLC6A5

Linked Data

• dbSNP Id: rs2133788044
• gnomAD v3: 11-20617671-T-C
• gnomAD v4: 11-20617671-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.20617671T>C , CM000673.2:g.20617671T>C	GRCh38
NC_000011.9:g.20639217T>C , CM000673.1:g.20639217T>C	GRCh37
NC_000011.8:g.20595793T>C	NCBI36
NG_013086.1:g.23272T>C
NG_013086.2:g.23272T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525748.6:c.1128-81T>C MANE Select	ENSP00000434364.2:n.1128-81T>C
ENST00000298923.11:c.*425-81T>C	ENSP00000298923.7:n.*425-81T>C
ENST00000525748.5:c.1128-81T>C	ENSP00000434364.1:n.1128-81T>C
NM_004211.3:c.1128-81T>C	NP_004202.2:n.1128-81T>C
XM_005253225.1:c.426-81T>C	XP_005253282.1:n.426-81T>C
XM_011520473.1:c.1128-81T>C	XP_011518775.1:n.1128-81T>C
NM_001318369.1:c.426-81T>C	NP_001305298.1:n.426-81T>C
NM_004211.4:c.1128-81T>C	NP_004202.3:n.1128-81T>C
XM_017018544.2:c.252-81T>C	XP_016874033.1:n.252-81T>C
XM_017018545.2:c.87-81T>C	XP_016874034.1:n.87-81T>C
NM_001318369.2:c.426-81T>C	NP_001305298.1:n.426-81T>C
NM_004211.5:c.1128-81T>C MANE Select	NP_004202.4:n.1128-81T>C