Canonical Allele Identifier: CA349043399

Gene: GALNT3

Linked Data

• MyVariant Identifiers: chr2:g.166626718C>G (hg19) ; chr2:g.165770208C>G (hg38)

Genomic Alleles

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

Transcript Alleles

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