Canonical Allele Identifier: CA59765048

Gene: GALNT3

Linked Data

• dbSNP Id: rs537299003
• gnomAD v3: 2-165792371-T-A
• gnomAD v4: 2-165792371-T-A
• MyVariant Identifiers: chr2:g.166648881T>A (hg19) ; chr2:g.165792371T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165792371T>A , CM000664.2:g.165792371T>A	GRCh38
NC_000002.11:g.166648881T>A , CM000664.1:g.166648881T>A	GRCh37
NC_000002.10:g.166357127T>A	NCBI36
NG_012069.1:g.6923A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392701.8:c.-109+1644A>T MANE Select	ENSP00000376465.3:n.-109+1644A>T
ENST00000392701.7:c.-109+1644A>T	ENSP00000376465.3:n.-109+1644A>T
ENST00000412248.5:c.-228+1954A>T	ENSP00000412643.1:n.-228+1954A>T
ENST00000414977.5:c.-228+1349A>T	ENSP00000413477.1:n.-228+1349A>T
ENST00000422973.1:c.-228+1644A>T	ENSP00000413694.1:n.-228+1644A>T
ENST00000431484.1:c.-109+2118A>T	ENSP00000397112.1:n.-109+2118A>T
NM_004482.3:c.-109+1644A>T	NP_004473.2:n.-109+1644A>T
XM_006712402.2:c.-109+1644A>T	XP_006712465.1:n.-109+1644A>T
XM_011510929.1:c.-109+2118A>T	XP_011509231.1:n.-109+2118A>T
XM_017003770.1:c.-109+1954A>T	XP_016859259.1:n.-109+1954A>T
XR_002959253.1:n.233+1644A>T
NM_004482.4:c.-109+1644A>T MANE Select	NP_004473.2:n.-109+1644A>T