Canonical Allele Identifier: CA361984011
Gene: ADAM19 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.157509356T>G
GRCh37 chr5:g.156936364T>G
Revel Score:
ENST00000430702 0.062
ENST00000257527 (MANE Select) 0.062
ENST00000394020 0.062
ENST00000517905 0.062
gnomAD v2:
5:156936364 T / G
gnomAD v4:
chr5-157509356-T-G
Joint Max Group AF 0.0000133 (AMR)
Exomes Max Group AF 0.00001784 (AMR)
dbSNP:
1422795
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157509356T>G , CM000667.2:g.157509356T>G GRCh38
NC_000005.9:g.156936364T>G , CM000667.1:g.156936364T>G GRCh37
NC_000005.8:g.156868942T>G NCBI36
NG_046960.1:g.71468A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000257527.9:c.850A>C MANE Select ENSP00000257527.5:p.Ser284Arg
ENST00000257527.8:c.850A>C ENSP00000257527.4:p.Ser284Arg
ENST00000517905.1:c.850A>C ENSP00000428654.1:p.Ser284Arg
ENST00000517951.5:c.*41A>C ENSP00000428376.1:n.*41A>C
NM_033274.4:c.850A>C NP_150377.1:p.Ser284Arg
XM_005266003.2:c.850A>C XP_005266060.1:p.Ser284Arg
XM_011534680.1:c.49A>C XP_011532982.1:p.Ser17Arg
XM_011534681.1:c.49A>C XP_011532983.1:p.Ser17Arg
XM_011534682.1:c.49A>C XP_011532984.1:p.Ser17Arg
XM_011534682.2:c.49A>C XP_011532984.1:p.Ser17Arg
XM_017010009.1:c.49A>C XP_016865498.1:p.Ser17Arg
NM_033274.5:c.850A>C MANE Select NP_150377.1:p.Ser284Arg
Search 100 bp 5'
Search 100 bp 3'