Canonical Allele Identifier: CA362375722

Gene: B4GALT7

Linked Data

• MyVariant Identifiers: chr5:g.177034460C>A (hg19) ; chr5:g.177607459C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177607459C>A , CM000667.2:g.177607459C>A	GRCh38
NC_000005.9:g.177034460C>A , CM000667.1:g.177034460C>A	GRCh37
NC_000005.8:g.176967066C>A	NCBI36
NG_015977.1:g.12342C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000029410.10:c.571C>A MANE Select	ENSP00000029410.5:p.His191Asn
ENST00000029410.9:c.571C>A	ENSP00000029410.5:p.His191Asn
ENST00000502420.1:n.550C>A
ENST00000505145.1:n.1669C>A
ENST00000505433.5:c.*77C>A	ENSP00000425591.1:n.*77C>A
ENST00000515353.1:n.95C>A
NM_007255.2:c.571C>A	NP_009186.1:p.His191Asn
XM_005265805.2:c.229C>A	XP_005265862.1:p.His77Asn
XM_006714816.2:c.91C>A	XP_006714879.1:p.His31Asn
XM_011534421.1:c.229C>A	XP_011532723.1:p.His77Asn
XM_006714816.4:c.91C>A	XP_006714879.1:p.His31Asn
XM_017008999.2:c.229C>A	XP_016864488.1:p.His77Asn
NM_007255.3:c.571C>A MANE Select	NP_009186.1:p.His191Asn