Canonical Allele Identifier: CA3182881

Gene: SLC6A19

Linked Data

• dbSNP Id: rs766961731
• ExAC: 5:1213727 G / C
• gnomAD v2: 5-1213727-G-C
• gnomAD v4: 5-1213612-G-C
• MyVariant Identifiers: chr5:g.1213727G>C (hg19) ; chr5:g.1213612G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1213612G>C , CM000667.2:g.1213612G>C	GRCh38
NC_000005.9:g.1213727G>C , CM000667.1:g.1213727G>C	GRCh37
NC_000005.8:g.1266727G>C	NCBI36
NG_008282.1:g.17018G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304460.11:c.774+39G>C MANE Select	ENSP00000305302.10:n.774+39G>C
ENST00000304460.10:c.774+39G>C	ENSP00000305302.10:n.774+39G>C
ENST00000515652.5:c.682+39G>C	ENSP00000425701.1:n.682+39G>C
NM_001003841.2:c.774+39G>C	NP_001003841.1:n.774+39G>C
NM_001003841.3:c.774+39G>C MANE Select	NP_001003841.1:n.774+39G>C