Canonical Allele Identifier: CA112941815

Gene: SLC6A19

Linked Data

• dbSNP Id: rs990424717
• gnomAD v2: 5-1213902-C-T
• gnomAD v3: 5-1213787-C-T
• gnomAD v4: 5-1213787-C-T
• MyVariant Identifiers: chr5:g.1213902C>T (hg19) ; chr5:g.1213902_1213919delinsTGACGGAGCCCCCACAGG (hg19) ; chr5:g.1213787C>T (hg38) ; chr5:g.1213787_1213804delinsTGACGGAGCCCCCACAGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1213787C>T , CM000667.2:g.1213787C>T	GRCh38
NC_000005.9:g.1213902C>T , CM000667.1:g.1213902C>T	GRCh37
NC_000005.8:g.1266902C>T	NCBI36
NG_008282.1:g.17193C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304460.11:c.775-166C>T MANE Select	ENSP00000305302.10:n.775-166C>T
ENST00000304460.10:c.775-166C>T	ENSP00000305302.10:n.775-166C>T
ENST00000515652.5:c.683-166C>T	ENSP00000425701.1:n.683-166C>T
NM_001003841.2:c.775-166C>T	NP_001003841.1:n.775-166C>T
NM_001003841.3:c.775-166C>T MANE Select	NP_001003841.1:n.775-166C>T