Canonical Allele Identifier: CA760162636

Gene: GALNT3

Linked Data

• dbSNP Id: rs1279203376
• gnomAD v4: 2-165747853-AT-A
• MyVariant Identifiers: chr2:g.166604364del (hg19) ; chr2:g.165747854del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165747854del , CM000664.2:g.165747854del	GRCh38
NC_000002.11:g.166604364del , CM000664.1:g.166604364del	GRCh37
NC_000002.10:g.166312610del	NCBI36
NG_012069.1:g.51440del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392701.8:c.*927del MANE Select	ENSP00000376465.3:n.*927del
ENST00000392701.7:c.*927del	ENSP00000376465.3:n.*927del
ENST00000409882.5:c.*927del	ENSP00000386955.1:n.*927del
NM_004482.3:c.*927del	NP_004473.2:n.*927del
XM_005246449.1:c.*927del	XP_005246506.1:n.*927del
XM_011510929.1:c.*927del	XP_011509231.1:n.*927del
XM_017003770.1:c.*927del	XP_016859259.1:n.*927del
NM_004482.4:c.*927del MANE Select	NP_004473.2:n.*927del