Canonical Allele Identifier: CA2695038889

Gene: SLC6A8

Linked Data

• gnomAD v4: X-153690511-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153690511G>T , CM000685.2:g.153690511G>T	GRCh38
NC_000023.10:g.152955966G>T , CM000685.1:g.152955966G>T	GRCh37
NC_000023.9:g.152609160G>T	NCBI36
NG_012016.1:g.7215G>T
NG_012016.2:g.7215G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.394+5G>T MANE Select	ENSP00000253122.5:n.394+5G>T
ENST00000675713.1:n.148+5G>T
ENST00000253122.9:c.394+5G>T	ENSP00000253122.5:n.394+5G>T
ENST00000430077.6:c.49+5G>T	ENSP00000403041.2:n.49+5G>T
ENST00000476466.1:n.251G>T
NM_001142805.1:c.394+5G>T	NP_001136277.1:n.394+5G>T
NM_001142806.1:c.49+5G>T	NP_001136278.1:n.49+5G>T
NM_005629.3:c.394+5G>T	NP_005620.1:n.394+5G>T
NM_005629.4:c.394+5G>T MANE Select	NP_005620.1:n.394+5G>T
NM_001142805.2:c.394+5G>T	NP_001136277.1:n.394+5G>T