Canonical Allele Identifier: CA351208
Community Standard Title: NM_024642.5(GALNT12):c.907G>A (p.Asp303Asn)
Gene: GALNT12 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98831947G>A , CM000671.2:g.98831947G>A GRCh38
NC_000009.11:g.101594229G>A , CM000671.1:g.101594229G>A GRCh37
NC_000009.10:g.100634050G>A NCBI36
NG_028218.1:g.29249G>A

Transcript Alleles

HGVS Amino-acid Change
NM_024642.5:c.907G>A MANE Select NP_078918.3:p.Asp303Asn
ENST00000375011.4:c.907G>A MANE Select ENSP00000364150.3:p.Asp303Asn
NM_024642.4:c.907G>A NP_078918.3:p.Asp303Asn
ENST00000375011.3:c.907G>A ENSP00000364150.3:p.Asp303Asn
ENST00000610463.1:c.433G>A
XM_006717287.1:c.16G>A XP_006717350.1:p.Asp6Asn
XM_011519018.1:c.685G>A XP_011517320.1:p.Asp229Asn
XM_011519018.3:c.685G>A XP_011517320.1:p.Asp229Asn
XM_011519019.1:c.658G>A XP_011517321.1:p.Asp220Asn
XM_011519020.1:c.199G>A XP_011517322.1:p.Asp67Asn
XM_017015133.1:c.655G>A XP_016870622.1:p.Asp219Asn
XM_024447673.1:c.-1497G>A XP_024303441.1:n.-1497G>A