Canonical Allele Identifier: CA2578258899
Gene: SLC6A19 HGNC NCBI

Linked Data

gnomAD v4: 5-1213425-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1213425C>A , CM000667.2:g.1213425C>A GRCh38
NC_000005.9:g.1213540C>A , CM000667.1:g.1213540C>A GRCh37
NC_000005.8:g.1266540C>A NCBI36
NG_008282.1:g.16831C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000304460.11:c.664-38C>A MANE Select ENSP00000305302.10:n.664-38C>A
ENST00000304460.10:c.664-38C>A ENSP00000305302.10:n.664-38C>A
ENST00000515652.5:c.572-38C>A ENSP00000425701.1:n.572-38C>A
NM_001003841.2:c.664-38C>A NP_001003841.1:n.664-38C>A
NM_001003841.3:c.664-38C>A MANE Select NP_001003841.1:n.664-38C>A