Canonical Allele Identifier: CA415076828

Gene: SLC6A8 PNCK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153688773G>C , CM000685.2:g.153688773G>C	GRCh38
NC_000023.10:g.152954228G>C , CM000685.1:g.152954228G>C	GRCh37
NC_000023.9:g.152607422G>C	NCBI36
NG_012016.1:g.5477G>C
NG_012016.2:g.5477G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_005629.4:c.199G>C (SLC6A8) MANE Select	NP_005620.1:p.Gly67Arg
ENST00000253122.10:c.199G>C (SLC6A8) MANE Select	ENSP00000253122.5:p.Gly67Arg
NM_001142805.1:c.199G>C (SLC6A8)	NP_001136277.1:p.Gly67Arg
NM_001142805.2:c.199G>C (SLC6A8)	NP_001136277.1:p.Gly67Arg
NM_005629.3:c.199G>C (SLC6A8)	NP_005620.1:p.Gly67Arg
ENST00000253122.9:c.199G>C (SLC6A8)	ENSP00000253122.5:p.Gly67Arg
ENST00000458354.5:c.-3+42C>G (PNCK)	ENSP00000401542.1:n.-3+42C>G
ENST00000476466.1:n.51G>C (SLC6A8)
ENST00000480693.1:n.64+42C>G (PNCK)