Canonical Allele Identifier: CA2612829917

Gene: SLC6A5

Linked Data

• gnomAD v4: 11-20638394-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.20638394A>C , CM000673.2:g.20638394A>C	GRCh38
NC_000011.9:g.20659940A>C , CM000673.1:g.20659940A>C	GRCh37
NC_000011.8:g.20616516A>C	NCBI36
NG_013086.1:g.43995A>C
NG_013086.2:g.43995A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000525748.6:c.1870-65A>C MANE Select	ENSP00000434364.2:n.1870-65A>C
ENST00000298923.11:c.*1167-65A>C	ENSP00000298923.7:n.*1167-65A>C
ENST00000525748.5:c.1870-65A>C	ENSP00000434364.1:n.1870-65A>C
ENST00000528440.1:n.401-65A>C
NM_004211.3:c.1870-65A>C	NP_004202.2:n.1870-65A>C
XM_005253225.1:c.1168-65A>C	XP_005253282.1:n.1168-65A>C
XM_011520473.1:c.1870-65A>C	XP_011518775.1:n.1870-65A>C
NM_001318369.1:c.1168-65A>C	NP_001305298.1:n.1168-65A>C
NM_004211.4:c.1870-65A>C	NP_004202.3:n.1870-65A>C
XM_017018544.2:c.994-65A>C	XP_016874033.1:n.994-65A>C
XM_017018545.2:c.829-65A>C	XP_016874034.1:n.829-65A>C
NM_001318369.2:c.1168-65A>C	NP_001305298.1:n.1168-65A>C
NM_004211.5:c.1870-65A>C MANE Select	NP_004202.4:n.1870-65A>C