Canonical Allele Identifier: CA192447220
Gene: B4GALT1 HGNC NCBI

Linked Data

dbSNP Id: rs757759459
gnomAD v3: 9-33139540-T-C
gnomAD v4: 9-33139540-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.33139540T>C , CM000671.2:g.33139540T>C GRCh38
NC_000009.11:g.33139538T>C , CM000671.1:g.33139538T>C GRCh37
NC_000009.10:g.33129538T>C NCBI36
NG_008919.1:g.32819A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000379731.5:c.413-4116A>G MANE Select ENSP00000369055.4:n.413-4116A>G
ENST00000379731.4:c.413-4116A>G ENSP00000369055.4:n.413-4116A>G
ENST00000535206.5:c.413-4116A>G ENSP00000440341.1:n.413-4116A>G
NM_001497.3:c.413-4116A>G NP_001488.2:n.413-4116A>G
XM_005251440.3:c.413-4116A>G XP_005251497.1:n.413-4116A>G
XM_005251440.5:c.413-4116A>G XP_005251497.1:n.413-4116A>G
NM_001378495.1:c.374-4116A>G NP_001365424.1:n.374-4116A>G
NM_001378496.1:c.413-4116A>G NP_001365425.1:n.413-4116A>G
NM_001378497.1:c.413-4116A>G NP_001365426.1:n.413-4116A>G
NM_001497.4:c.413-4116A>G MANE Select NP_001488.2:n.413-4116A>G