Canonical Allele Identifier: CA362377012

Gene: B4GALT7

Linked Data

• MyVariant Identifiers: chr5:g.177035998A>T (hg19) ; chr5:g.177608997A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177608997A>T , CM000667.2:g.177608997A>T	GRCh38
NC_000005.9:g.177035998A>T , CM000667.1:g.177035998A>T	GRCh37
NC_000005.8:g.176968604A>T	NCBI36
NG_015977.1:g.13880A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000029410.10:c.811A>T MANE Select	ENSP00000029410.5:p.Ile271Phe
ENST00000029410.9:c.811A>T	ENSP00000029410.5:p.Ile271Phe
ENST00000505145.1:n.1909A>T
ENST00000505433.5:c.*317A>T	ENSP00000425591.1:n.*317A>T
ENST00000515353.1:n.1633A>T
NM_007255.2:c.811A>T	NP_009186.1:p.Ile271Phe
XM_005265805.2:c.469A>T	XP_005265862.1:p.Ile157Phe
XM_006714816.2:c.331A>T	XP_006714879.1:p.Ile111Phe
XM_011534421.1:c.469A>T	XP_011532723.1:p.Ile157Phe
XM_006714816.4:c.331A>T	XP_006714879.1:p.Ile111Phe
XM_017008999.2:c.469A>T	XP_016864488.1:p.Ile157Phe
NM_007255.3:c.811A>T MANE Select	NP_009186.1:p.Ile271Phe