Canonical Allele Identifier: CA59745704
Community Standard Title: NM_004482.4(GALNT3):c.1626+131G>A
Gene: GALNT3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.165754496C>T , CM000664.2:g.165754496C>T GRCh38
NC_000002.11:g.166611006C>T , CM000664.1:g.166611006C>T GRCh37
NC_000002.10:g.166319252C>T NCBI36
NG_012069.1:g.44798G>A

Transcript Alleles

HGVS Amino-acid Change
NM_004482.4:c.1626+131G>A MANE Select NP_004473.2:n.1626+131G>A
ENST00000392701.8:c.1626+131G>A MANE Select ENSP00000376465.3:n.1626+131G>A
NM_004482.3:c.1626+131G>A NP_004473.2:n.1626+131G>A
ENST00000392701.7:c.1626+131G>A ENSP00000376465.3:n.1626+131G>A
ENST00000409882.5:c.840+131G>A ENSP00000386955.1:n.840+131G>A
XM_005246449.1:c.1626+131G>A XP_005246506.1:n.1626+131G>A
XM_011510929.1:c.1626+131G>A XP_011509231.1:n.1626+131G>A
XM_017003770.1:c.1626+131G>A XP_016859259.1:n.1626+131G>A
XR_002959253.1:n.1902+131G>A