Canonical Allele Identifier: CA371331424

Gene: GGH

Linked Data

• dbSNP Id: rs1292291793
• gnomAD v2: 8-63951317-G-T
• gnomAD v4: 8-63038758-G-T
• MyVariant Identifiers: chr8:g.63951317G>T (hg19) ; chr8:g.63038758G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.63038758G>T , CM000670.2:g.63038758G>T	GRCh38
NC_000008.10:g.63951317G>T , CM000670.1:g.63951317G>T	GRCh37
NC_000008.9:g.64113871G>T	NCBI36
NG_028126.1:g.5294C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260118.7:c.11C>A MANE Select	ENSP00000260118.6:p.Pro4Gln
ENST00000518113.2:c.11C>A	ENSP00000504520.1:p.Pro4Gln
ENST00000523788.2:n.38C>A
ENST00000677327.1:n.650C>A
ENST00000677459.1:c.11C>A	ENSP00000503731.1:p.Pro4Gln
ENST00000677482.1:c.11C>A	ENSP00000504590.1:p.Pro4Gln
ENST00000678069.1:n.45C>A
ENST00000679326.1:c.11C>A	ENSP00000504262.1:p.Pro4Gln
ENST00000260118.6:c.11C>A	ENSP00000260118.6:p.Pro4Gln
ENST00000518966.5:n.44C>A
ENST00000520609.5:n.44C>A
ENST00000523788.1:n.45C>A
NM_003878.2:c.11C>A	NP_003869.1:p.Pro4Gln
XM_011517623.1:c.11C>A	XP_011515925.1:p.Pro4Gln
XM_011517623.3:c.11C>A	XP_011515925.1:p.Pro4Gln
NM_003878.3:c.11C>A MANE Select	NP_003869.1:p.Pro4Gln