Canonical Allele Identifier: CA362372996

Gene: B4GALT7

Linked Data

• MyVariant Identifiers: chr5:g.177031298G>C (hg19) ; chr5:g.177604297G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177604297G>C , CM000667.2:g.177604297G>C	GRCh38
NC_000005.9:g.177031298G>C , CM000667.1:g.177031298G>C	GRCh37
NC_000005.8:g.176963904G>C	NCBI36
NG_015977.1:g.9180G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000029410.10:c.169G>C MANE Select	ENSP00000029410.5:p.Val57Leu
ENST00000029410.9:c.169G>C	ENSP00000029410.5:p.Val57Leu
ENST00000502420.1:n.148G>C
ENST00000505433.5:c.169G>C	ENSP00000425591.1:p.Val57Leu
ENST00000505468.1:c.-174G>C	ENSP00000420886.1:n.-174G>C
ENST00000510761.1:c.-174G>C	ENSP00000423438.1:n.-174G>C
NM_007255.2:c.169G>C	NP_009186.1:p.Val57Leu
XM_005265805.2:c.-174G>C	XP_005265862.1:n.-174G>C
XM_006714816.2:c.-331G>C	XP_006714879.1:n.-331G>C
XM_011534421.1:c.-174G>C	XP_011532723.1:n.-174G>C
XM_006714816.4:c.-331G>C	XP_006714879.1:n.-331G>C
XM_017008999.2:c.-174G>C	XP_016864488.1:n.-174G>C
NM_007255.3:c.169G>C MANE Select	NP_009186.1:p.Val57Leu