Canonical Allele Identifier: CA597487713

Gene: SLC6A5

Linked Data

• dbSNP Id: rs1159930339
• gnomAD v2: 11-20659943-G-A
• gnomAD v3: 11-20638397-G-A
• gnomAD v4: 11-20638397-G-A
• MyVariant Identifiers: chr11:g.20659943G>A (hg19) ; chr11:g.20638397G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.20638397G>A , CM000673.2:g.20638397G>A	GRCh38
NC_000011.9:g.20659943G>A , CM000673.1:g.20659943G>A	GRCh37
NC_000011.8:g.20616519G>A	NCBI36
NG_013086.1:g.43998G>A
NG_013086.2:g.43998G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000525748.6:c.1870-62G>A MANE Select	ENSP00000434364.2:n.1870-62G>A
ENST00000298923.11:c.*1167-62G>A	ENSP00000298923.7:n.*1167-62G>A
ENST00000525748.5:c.1870-62G>A	ENSP00000434364.1:n.1870-62G>A
ENST00000528440.1:n.401-62G>A
NM_004211.3:c.1870-62G>A	NP_004202.2:n.1870-62G>A
XM_005253225.1:c.1168-62G>A	XP_005253282.1:n.1168-62G>A
XM_011520473.1:c.1870-62G>A	XP_011518775.1:n.1870-62G>A
NM_001318369.1:c.1168-62G>A	NP_001305298.1:n.1168-62G>A
NM_004211.4:c.1870-62G>A	NP_004202.3:n.1870-62G>A
XM_017018544.2:c.994-62G>A	XP_016874033.1:n.994-62G>A
XM_017018545.2:c.829-62G>A	XP_016874034.1:n.829-62G>A
NM_001318369.2:c.1168-62G>A	NP_001305298.1:n.1168-62G>A
NM_004211.5:c.1870-62G>A MANE Select	NP_004202.4:n.1870-62G>A