Canonical Allele Identifier: CA362374135

Gene: B4GALT7

Linked Data

• gnomAD v4: 5-177604493-A-C
• MyVariant Identifiers: chr5:g.177031494A>C (hg19) ; chr5:g.177604493A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177604493A>C , CM000667.2:g.177604493A>C	GRCh38
NC_000005.9:g.177031494A>C , CM000667.1:g.177031494A>C	GRCh37
NC_000005.8:g.176964100A>C	NCBI36
NG_015977.1:g.9376A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000029410.10:c.365A>C MANE Select	ENSP00000029410.5:p.Lys122Thr
ENST00000029410.9:c.365A>C	ENSP00000029410.5:p.Lys122Thr
ENST00000502420.1:n.344A>C
ENST00000505433.5:c.365A>C	ENSP00000425591.1:p.Lys122Thr
ENST00000505468.1:c.23A>C	ENSP00000420886.1:p.Lys8Thr
ENST00000507061.1:c.182A>C	ENSP00000423868.1:p.Lys61Thr
ENST00000510761.1:c.23A>C	ENSP00000423438.1:p.Lys8Thr
NM_007255.2:c.365A>C	NP_009186.1:p.Lys122Thr
XM_005265805.2:c.23A>C	XP_005265862.1:p.Lys8Thr
XM_006714816.2:c.-135A>C	XP_006714879.1:n.-135A>C
XM_011534421.1:c.23A>C	XP_011532723.1:p.Lys8Thr
XM_006714816.4:c.-135A>C	XP_006714879.1:n.-135A>C
XM_017008999.2:c.23A>C	XP_016864488.1:p.Lys8Thr
NM_007255.3:c.365A>C MANE Select	NP_009186.1:p.Lys122Thr