Canonical Allele Identifier: CA362376636

Gene: B4GALT7

Linked Data

• MyVariant Identifiers: chr5:g.177035915T>G (hg19) ; chr5:g.177608914T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177608914T>G , CM000667.2:g.177608914T>G	GRCh38
NC_000005.9:g.177035915T>G , CM000667.1:g.177035915T>G	GRCh37
NC_000005.8:g.176968521T>G	NCBI36
NG_015977.1:g.13797T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000029410.10:c.728T>G MANE Select	ENSP00000029410.5:p.Phe243Cys
ENST00000029410.9:c.728T>G	ENSP00000029410.5:p.Phe243Cys
ENST00000505145.1:n.1826T>G
ENST00000505433.5:c.*234T>G	ENSP00000425591.1:n.*234T>G
ENST00000515353.1:n.1550T>G
NM_007255.2:c.728T>G	NP_009186.1:p.Phe243Cys
XM_005265805.2:c.386T>G	XP_005265862.1:p.Phe129Cys
XM_006714816.2:c.248T>G	XP_006714879.1:p.Phe83Cys
XM_011534421.1:c.386T>G	XP_011532723.1:p.Phe129Cys
XM_006714816.4:c.248T>G	XP_006714879.1:p.Phe83Cys
XM_017008999.2:c.386T>G	XP_016864488.1:p.Phe129Cys
NM_007255.3:c.728T>G MANE Select	NP_009186.1:p.Phe243Cys