Canonical Allele Identifier: CA1941230

Gene: GALNT3

Linked Data

• ClinVar Variation Id: 331788
• ClinVar RCV Id: RCV000272316 ; RCV001850779
• dbSNP Id: rs147779149
• ExAC: 2:166626718 C / T
• gnomAD v2: 2-166626718-C-T
• gnomAD v3: 2-165770208-C-T
• gnomAD v4: 2-165770208-C-T
• MyVariant Identifiers: chr2:g.166626718C>T (hg19) ; chr2:g.165770208C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165770208C>T , CM000664.2:g.165770208C>T	GRCh38
NC_000002.11:g.166626718C>T , CM000664.1:g.166626718C>T	GRCh37
NC_000002.10:g.166334964C>T	NCBI36
NG_012069.1:g.29086G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392701.8:c.493G>A MANE Select	ENSP00000376465.3:p.Gly165Arg
ENST00000392701.7:c.493G>A	ENSP00000376465.3:p.Gly165Arg
ENST00000412248.5:c.493G>A	ENSP00000412643.1:p.Gly165Arg
NM_004482.3:c.493G>A	NP_004473.2:p.Gly165Arg
XM_005246449.1:c.493G>A	XP_005246506.1:p.Gly165Arg
XM_006712402.2:c.493G>A	XP_006712465.1:p.Gly165Arg
XM_011510929.1:c.493G>A	XP_011509231.1:p.Gly165Arg
XM_017003770.1:c.493G>A	XP_016859259.1:p.Gly165Arg
XR_002959253.1:n.834G>A
NM_004482.4:c.493G>A MANE Select	NP_004473.2:p.Gly165Arg