Canonical Allele Identifier: CA362375653

Gene: B4GALT7

Linked Data

• MyVariant Identifiers: chr5:g.177034448T>G (hg19) ; chr5:g.177607447T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177607447T>G , CM000667.2:g.177607447T>G	GRCh38
NC_000005.9:g.177034448T>G , CM000667.1:g.177034448T>G	GRCh37
NC_000005.8:g.176967054T>G	NCBI36
NG_015977.1:g.12330T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000029410.10:c.559T>G MANE Select	ENSP00000029410.5:p.Ser187Ala
ENST00000029410.9:c.559T>G	ENSP00000029410.5:p.Ser187Ala
ENST00000502420.1:n.538T>G
ENST00000505145.1:n.1657T>G
ENST00000505433.5:c.*65T>G	ENSP00000425591.1:n.*65T>G
ENST00000515353.1:n.83T>G
NM_007255.2:c.559T>G	NP_009186.1:p.Ser187Ala
XM_005265805.2:c.217T>G	XP_005265862.1:p.Ser73Ala
XM_006714816.2:c.79T>G	XP_006714879.1:p.Ser27Ala
XM_011534421.1:c.217T>G	XP_011532723.1:p.Ser73Ala
XM_006714816.4:c.79T>G	XP_006714879.1:p.Ser27Ala
XM_017008999.2:c.217T>G	XP_016864488.1:p.Ser73Ala
NM_007255.3:c.559T>G MANE Select	NP_009186.1:p.Ser187Ala