Canonical Allele Identifier: CA4763089
Gene: GGH HGNC NCBI
COSMIC:
COSM1569586 (not active)
MyVariant.info:
GRCh38 chr8:g.63038678C>T
GRCh37 chr8:g.63951237C>T
Revel Score:
ENST00000260118 (MANE Select) 0.041
gnomAD v2:
8:63951237 C / T
gnomAD v3:
8:63038678 C / T
gnomAD v4:
chr8-63038678-C-T
Joint Max Group AF 0.25897741 (NFE)
Genomes Max Group AF 0.25803219 (SAS)
Exomes Max Group AF 0.25917301 (NFE)
dbSNP:
11545077
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.63038678C>T , CM000670.2:g.63038678C>T GRCh38
NC_000008.10:g.63951237C>T , CM000670.1:g.63951237C>T GRCh37
NC_000008.9:g.64113791C>T NCBI36
NG_028126.1:g.5374G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000260118.7:c.91G>A MANE Select ENSP00000260118.6:p.Ala31Thr
ENST00000518113.2:c.91G>A ENSP00000504520.1:p.Ala31Thr
ENST00000523788.2:n.118G>A
ENST00000677327.1:n.730G>A
ENST00000677459.1:c.91G>A ENSP00000503731.1:p.Ala31Thr
ENST00000677482.1:c.91G>A ENSP00000504590.1:p.Ala31Thr
ENST00000678069.1:n.125G>A
ENST00000679326.1:c.91G>A ENSP00000504262.1:p.Ala31Thr
ENST00000260118.6:c.91G>A ENSP00000260118.6:p.Ala31Thr
ENST00000518966.5:n.124G>A
ENST00000520609.5:n.124G>A
ENST00000523788.1:n.125G>A
NM_003878.2:c.91G>A NP_003869.1:p.Ala31Thr
XM_011517623.1:c.91G>A XP_011515925.1:p.Ala31Thr
XM_011517623.3:c.91G>A XP_011515925.1:p.Ala31Thr
NM_003878.3:c.91G>A MANE Select NP_003869.1:p.Ala31Thr
Search 100 bp 5'
Search 100 bp 3'