Canonical Allele Identifier: CA1940968
Community Standard Title: NM_004482.4(GALNT3):c.1392+14A>G
Gene: GALNT3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.165757033T>C , CM000664.2:g.165757033T>C GRCh38
NC_000002.11:g.166613543T>C , CM000664.1:g.166613543T>C GRCh37
NC_000002.10:g.166321789T>C NCBI36
NG_012069.1:g.42261A>G

Transcript Alleles

HGVS Amino-acid Change
NM_004482.4:c.1392+14A>G MANE Select NP_004473.2:n.1392+14A>G
ENST00000392701.8:c.1392+14A>G MANE Select ENSP00000376465.3:n.1392+14A>G
NM_004482.3:c.1392+14A>G NP_004473.2:n.1392+14A>G
ENST00000392701.7:c.1392+14A>G ENSP00000376465.3:n.1392+14A>G
ENST00000409882.5:c.606+14A>G ENSP00000386955.1:n.606+14A>G
XM_005246449.1:c.1392+14A>G XP_005246506.1:n.1392+14A>G
XM_011510929.1:c.1392+14A>G XP_011509231.1:n.1392+14A>G
XM_017003770.1:c.1392+14A>G XP_016859259.1:n.1392+14A>G
XR_002959253.1:n.1668+14A>G