Canonical Allele Identifier: CA379911941

Gene: SLC6A5

Linked Data

• MyVariant Identifiers: chr11:g.20622983G>C (hg19) ; chr11:g.20601437G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.20601437G>C , CM000673.2:g.20601437G>C	GRCh38
NC_000011.9:g.20622983G>C , CM000673.1:g.20622983G>C	GRCh37
NC_000011.8:g.20579559G>C	NCBI36
NG_013086.1:g.7038G>C
NG_013086.2:g.7038G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000525748.6:c.312G>C MANE Select	ENSP00000434364.2:p.Gln104His
ENST00000298923.11:c.312G>C	ENSP00000298923.7:p.Gln104His
ENST00000525748.5:c.312G>C	ENSP00000434364.1:p.Gln104His
NM_004211.3:c.312G>C	NP_004202.2:p.Gln104His
XM_005253225.1:c.-252G>C	XP_005253282.1:n.-252G>C
XM_011520473.1:c.312G>C	XP_011518775.1:p.Gln104His
NM_001318369.1:c.-252G>C	NP_001305298.1:n.-252G>C
NM_004211.4:c.312G>C	NP_004202.3:p.Gln104His
XM_017018545.2:c.-57+1762G>C	XP_016874034.1:n.-57+1762G>C
NM_001318369.2:c.-252G>C	NP_001305298.1:n.-252G>C
NM_004211.5:c.312G>C MANE Select	NP_004202.4:p.Gln104His