Canonical Allele Identifier: CA59747282

Gene: GALNT3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165757070C>T , CM000664.2:g.165757070C>T	GRCh38
NC_000002.11:g.166613580C>T , CM000664.1:g.166613580C>T	GRCh37
NC_000002.10:g.166321826C>T	NCBI36
NG_012069.1:g.42224G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004482.4:c.1369G>A MANE Select	NP_004473.2:p.Asp457Asn
ENST00000392701.8:c.1369G>A MANE Select	ENSP00000376465.3:p.Asp457Asn
NM_004482.3:c.1369G>A	NP_004473.2:p.Asp457Asn
ENST00000392701.7:c.1369G>A	ENSP00000376465.3:p.Asp457Asn
ENST00000409882.5:c.583G>A	ENSP00000386955.1:p.Asp195Asn
ENST00000412248.5:c.1369G>A	ENSP00000412643.1:p.Asp457Asn
ENST00000437849.1:c.797G>A	ENSP00000391104.1:n.797G>A
XM_005246449.1:c.1369G>A	XP_005246506.1:p.Asp457Asn
XM_011510929.1:c.1369G>A	XP_011509231.1:p.Asp457Asn
XM_017003770.1:c.1369G>A	XP_016859259.1:p.Asp457Asn
XR_002959253.1:n.1645G>A