Canonical Allele Identifier: CA12314816

Gene: OFCC1

Linked Data

• dbSNP Id: rs78226054
• gnomAD v2: 6-10176119-T-A
• gnomAD v3: 6-10175886-T-A
• gnomAD v4: 6-10175886-T-A
• MyVariant Identifiers: chr6:g.10176119T>A (hg19) ; chr6:g.10175886T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10175886T>A , CM000668.2:g.10175886T>A	GRCh38
NC_000006.11:g.10176119T>A , CM000668.1:g.10176119T>A	GRCh37
NC_000006.10:g.10284105T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000462111.1:n.164-16387A>T
ENST00000481704.1:c.-101-16387A>T	ENSP00000418286.1:n.-101-16387A>T
XM_017011612.1:c.-101-16387A>T	XP_016867101.1:n.-101-16387A>T
NR_170155.1:n.232-16387A>T