Canonical Allele Identifier: CA14594334
Gene: GALNT1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.35654108T>C , CM000680.2:g.35654108T>C GRCh38
NC_000018.9:g.33234072T>C , CM000680.1:g.33234072T>C GRCh37
NC_000018.8:g.31488070T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000269195.6:c.-103-452T>C MANE Select ENSP00000269195.4:n.-103-452T>C
ENST00000586725.1:n.239-452T>C
ENST00000589189.5:c.-103-452T>C ENSP00000465341.1:n.-103-452T>C
ENST00000591924.5:c.-103-452T>C ENSP00000465699.1:n.-103-452T>C
XM_005258239.2:c.-103-452T>C XP_005258296.1:n.-103-452T>C
NM_001384438.1:c.-4-551T>C NP_001371367.1:n.-4-551T>C
NM_001384439.1:c.-4-551T>C NP_001371368.1:n.-4-551T>C
NM_001384440.1:c.-103-452T>C NP_001371369.1:n.-103-452T>C
NM_001384441.1:c.-103-452T>C NP_001371370.1:n.-103-452T>C
NM_001384442.1:c.-103-452T>C NP_001371371.1:n.-103-452T>C
NM_001384443.1:c.-103-452T>C NP_001371372.1:n.-103-452T>C
NM_001384444.1:c.-103-452T>C NP_001371373.1:n.-103-452T>C
NM_001384445.1:c.-103-452T>C NP_001371374.1:n.-103-452T>C
NM_001384446.1:c.-103-452T>C NP_001371375.1:n.-103-452T>C
NM_020474.4:c.-103-452T>C MANE Select NP_065207.2:n.-103-452T>C
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