Canonical Allele Identifier: CA59741043

Gene: GALNT3

Linked Data

• dbSNP Id: rs921489779
• gnomAD v3: 2-165747873-G-A
• gnomAD v4: 2-165747873-G-A
• MyVariant Identifiers: chr2:g.166604383G>A (hg19) ; chr2:g.165747873G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165747873G>A , CM000664.2:g.165747873G>A	GRCh38
NC_000002.11:g.166604383G>A , CM000664.1:g.166604383G>A	GRCh37
NC_000002.10:g.166312629G>A	NCBI36
NG_012069.1:g.51421C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392701.8:c.*908C>T MANE Select	ENSP00000376465.3:n.*908C>T
ENST00000392701.7:c.*908C>T	ENSP00000376465.3:n.*908C>T
ENST00000409882.5:c.*908C>T	ENSP00000386955.1:n.*908C>T
NM_004482.3:c.*908C>T	NP_004473.2:n.*908C>T
XM_005246449.1:c.*908C>T	XP_005246506.1:n.*908C>T
XM_011510929.1:c.*908C>T	XP_011509231.1:n.*908C>T
XM_017003770.1:c.*908C>T	XP_016859259.1:n.*908C>T
NM_004482.4:c.*908C>T MANE Select	NP_004473.2:n.*908C>T