Canonical Allele Identifier: CA3182829

Gene: SLC6A19

Linked Data

• ClinVar Variation Id: 2904528
• ClinVar RCV Id: RCV003729333 ; RCV003948989
• dbSNP Id: rs374609774
• ExAC: 5:1213573 C / T
• gnomAD v2: 5-1213573-C-T
• gnomAD v3: 5-1213458-C-T
• gnomAD v4: 5-1213458-C-T
• MyVariant Identifiers: chr5:g.1213573C>T (hg19) ; chr5:g.1213458C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1213458C>T , CM000667.2:g.1213458C>T	GRCh38
NC_000005.9:g.1213573C>T , CM000667.1:g.1213573C>T	GRCh37
NC_000005.8:g.1266573C>T	NCBI36
NG_008282.1:g.16864C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304460.11:c.664-5C>T MANE Select	ENSP00000305302.10:n.664-5C>T
ENST00000304460.10:c.664-5C>T	ENSP00000305302.10:n.664-5C>T
ENST00000515652.5:c.572-5C>T	ENSP00000425701.1:n.572-5C>T
NM_001003841.2:c.664-5C>T	NP_001003841.1:n.664-5C>T
NM_001003841.3:c.664-5C>T MANE Select	NP_001003841.1:n.664-5C>T